Chromosome 1

Chromosome 1 is the largest human chromosome. 

Humans have two copies of chromosome 1, as they do with all of the autosomes, which are the non-sex chromosomes. 

Chromosome 1 spans about 249 million nucleotide base pairs, which are the basic units of information for DNA.

It represents about 8% of the total DNA in human cells.

The following is a partial list of genes on human chromosome 1.

C1orf112: encoding protein Chromosome 1 open reading frame 112

C1orf127: encoding protein Chromosome 1 open reading frame 127

C1orf27: encoding protein Chromosome 1 open reading frame 27

C1orf38: encoding protein Chromosome 1 open reading frame 38

CCDC181: encoding protein Coiled-coil domain-containing protein 181

DENN1B: hypothesized to be related to asthma

FHAD1: encoding protein Forkhead-associated domain containing protein 1

LOC100132287: uncharacterized protein

LRRIQ3: encoding protein Leucine-rich repeats and IQ motif containing 3

Shisa family member 4: encoding protein Shisa family member 4

TINAGL1: encoding protein Tubulointerstitial nephritis antigen-like


Partial list of the genes located on p-arm (short arm) of human chromosome 1:

AADACL3: Arylacetamide deacetylase-like 3

AADACL4: Arylacetamide deacetylase-like 4

ACADM: acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain

ACTG1P6: encoding protein Actin, gamma 1 pseudogene 6

ACTL8: Actin-like 8

ADGRL2 (1p31.1): adhesion G protein-coupled receptor L2

ADPRHL2: Poly(ADP-ribose) glycohydrolase ARH3

AMPD2: encoding enzyme AMP deaminase 2

ARID1A (1p36)

ATXN7L2: Ataxin 7-like 2

AZIN2: encoding enzyme Antizyme inhibitor 2 (AzI2) also known as arginine decarboxylase (ADC)

BCAS2: Breast carcinoma amplified sequence 2

BCL10 (1p22)

LRIF1: encoding protein Ligand-dependent nuclear receptor-interacting factor 1

C1orf109: chromosome 1 open reading frame 109

C1orf162: encoding protein Chromosome 1 open reading frame 162

C1orf194: encoding protein Chromosome 1 open reading frame 194

CZIB: chromosome 1 open reading frame 123

CACHD1 encoding protein Cache domain containing 1

CAMK2N1: encoding protein Calcium/calmodulin dependent protein kinase II inhibitor 1

CAMTA1 (1p36)

CASP9 (1p36)

CASZ1 (1p36): Castor zinc finger 1

CCDC17: encoding protein Coiled-coil domain containing 17

CCDC18: encoding protein Coiled-coil domain containing 18

CEP85: encoding protein Centrosomal protein 85

CFAP74: encoding protein Cilia and flagella associated protein 74

CHD5 (1p36)

CLIC4 (1p36)

CLSPN (1p34)

CMPK: UMP-CMP kinase

COL16A1 (1p35)

COL11A1: collagen, type XI, alpha 1

CPT2: carnitine palmitoyltransferase II

CRYZ: Crystallin zeta

CSDE1: Cold shock domain containing E1

CYP4B1 (1p33)

CYR61 (1p22)

DBT: dihydrolipoamide branched chain transacylase E2

DCLRE1B: DNA cross-link repair 1B

DEPDC1 encoding protein DEP domain containing 1

DIRAS3 (1p31): DIRAS family, GTP-binding RAS-like 3

DISP3: encoding protein Dispatched rnd transporter family member 3

DNASE2B: encoding protein Deoxyribonuclease 2 beta

DPH5: Diphthine synthase

DVL1 (1p36)

ENO1 (1p36)

EPHA2 (1p36)

EPS15 (1p32)

ESPN: espin (autosomal recessive deafness 36)

EVI5: ecotropic viral integration site 5

EXO5: encoding protein Exonuclease 5

EXTL1: exostosin like glycosyltransferase 1

EXTL2: exostosin like glycosyltransferase 2

FAM46B: family with sequence similarity 46, member B

FAM46C: family with sequence similarity 46, member C

FAM76A: family with sequence similarity 76, member A

FAM87B: encoding protein Family with sequence similarity 87 member B

FBXO2: F-box protein 2

FNBP1L encoding protein Formin-binding protein 1-like

FPGT: Fucose-1-phosphate guanylyltransferase

FUBP1 (1p31)

GALE: UDP-galactose-4-epimerase

GADD45A (1p31)

GBP1 (1p22)

GBP2: guanylate binding protein 2

GBP5 encoding protein Guanylate binding protein 5

GBP6: encoding protein Guanylate binding protein family member 6

GJB3: gap junction protein, beta 3, 31kDa (connexin 31)

GLMN (1p22)

GNL2: G protein nucleolar 2

GSTM1 (1p13)

GUCA2B: encoding protein Guanylate cyclase activator 2B

HDAC1 (1p35)

HES2: Hes family bHLH transcription factor 2

HES3: Hes family bHLH transcription factor 3

HMGCL: 3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase (hydroxymethylglutaricaciduria)

HAO2 encoding protein Hydroxyacid oxidase 2

HMGCS2: 3-hydroxy-3-methylglutaryl-CoA synthase 2

HP1BP3: Heterochromatin protein 1, binding protein 3

IFI6: Interferon alpha-inducible protein 6

IL22RA1 (1p36)

INTS11: Integrator complex subunit 11

JAK1 (1p31)

JUN (1p32)

KANK4: encoding protein KN motif and ankyrin repeat domains 4

KCNQ4: potassium voltage-gated channel, KQT-like subfamily, member 4

KIF1B: kinesin family member 1B

L1TD1: LINE-1 type transposase domain containing 1

LCK (1p35)

LINC01137: encoding protein Long intergenic non-protein coding RNA 1137

LRRC39: Leucine-rich repeat-containing protein 39

LRRC40: Leucine-rich repeat-containing protein 40

LRRC41: Leucine-rich repeat-containing protein 41

LRRC8D: Leucine-rich repeat-containing protein 8D

MACO1: encoding protein Transmembrane protein 57

MAN1A2: Mannosyl-oligosaccharide 1,2-alpha-mannosidase IB

MAP3K6: encoding protein Mitogen-activated protein kinase kinase kinase 6

MEAF6: MYST/ESA1 associated factor 6

MECR: Trans-2-enoyl-CoA reductase, mitochondrial

MFAP2: Microfibrillar-associated protein 2

MIB2 (1p36)

MIER1 (1p31)

MIGA1: encoding protein Mitoguardin 1

MFN2: mitofusin 2

MFSD2: Major facilitator superfamily domain containing 2A

MIR6079: microRNA 6079

MMEL1: Membrane metallo-endopeptidase-like 1

MTFR1L: mitochondrial fission regulator 1 like

MTHFR (1p36): 5,10-methylenetetrahydrofolate reductase (NADPH)

MUL1: Mitochondrial E3 ubiquitin protein ligase 1

MUTYH (1p34): mutY homolog (E. coli)

NBPF3: Neuroblastoma breakpoint family member 3

NDUFA4P1: encoding protein Nadh dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kda, pseudogene 1

NGF: Nerve Growth Factor

NOL9: Nucleolar protein 9

NRAS (1p13)

NOTCH2 (1p12)

OLFML3: Olfactomedin-like 3

OMA1: Metalloendopeptidase OMA1, mitochondrial

OVGP1: Oviductal glycoprotein 1

PARK7 (1p36): Parkinson disease (autosomal recessive, early onset) 7

PINK1: PTEN induced putative kinase 1

PLOD1: procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1

PRAMEF10: encoding protein Prame family member 10

PRMT6: Protein arginine methyltransferase 6

PRXL2B: encoding protein Peroxiredoxin like 2B

PSRC1: Proline/serine-rich coiled-coil protein 1

RAD54L: RAD54-like

RAP1A (1p13)

RBM15 (1p13)

RCC2: Regulator of chromosome condensation 2

REG4 (1p12)

RHBDL2: Rhomboid like 2

RHOC (1p13)

RIMS3: encoding protein Regulating synaptic membrane exocytosis 3

RLF: rearranged L-myc fusion

RNF11 (1p32)

RNF19B: encoding protein Ring finger protein 19B

RNF220: RING finger protein 220

RPA2 (1p35)

RSPO1 (1p34)

S100A1 (1q21)

SAMD11: encoding protein Sterile alpha motif domain containing 11

SDC3: Syndecan-3

SDHB (1p36)

SFPQ (1p34): encoding protein Splicing factor proline and glutamine rich

SGIP1: SH3 domain GRB2-like protein 3-interaction protein 1

SH3BGRL3: SH3 domain-binding glutamic acid-rich-like protein 3

SLC16A1 (1p13)

SLC2A1 Glucose transporter 1

SPSB1: SPRY domain-containing SOCS box protein 1

STIL (1p33)

SYCP1: Synaptonemal complex protein 1

SZT2: Seizure threshold 2 homolog

TACSTD2: tumor-associated calcium signal transducer 2

TAL1 (1p33)

TCTEX1D4: encoding protein Tctex1 domain containing 4

TCEB3: Transcription elongation factor B polypeptide 3

TGFBR3 (1p22)

THRAP3 (1p34)

TIE1 (1p34)

TM2D1: encoding protein Tm2 domain containing 1

TMCO2: encoding protein transmembrane and coiled-coil domains 2

TMCO4: encoding protein transmembrane and coiled-coil domains 4

TMEM48: encoding protein nucleoporin NDC1

TMEM50A: Transmembrane protein 50A

TMEM59: Transmembrane protein 59

TMEM69: Transmembrane protein 69

TMEM201 encoding protein Transmembrane protein 201

TMEM222: Transmembrane protein 222

TOE1: Target of EGR1 protein 1

TRABD2B: encoding protein Trab domain containing 2b

TRAPPC3: Trafficking protein particle complex subunit 3

TRIT1: tRNA isopentenyltransferase, mitochondrial

TSHB: thyroid stimulating hormone, beta

TTC39A: Tetratricopeptide repeat 39A

UBR4: E3 ubiquitin-protein ligase component n-recognin 4

UROD: uroporphyrinogen decarboxylase (the gene for porphyria cutanea tarda)

USP1 (1p31)

USP48: Ubiquitin carboxyl-terminal hydrolase 48

VAV3 (1p13)

VPS13D: Vacuolar protein sorting-associated protein 13D

VTCN1 (1p13)

WARS2: Tryptophanyl-tRNA synthetase, mitochondrial

WDR77 (1p13)

YBX1 (1p34)

ZCCHC17: zinc finger CCHC-type containing 17

ZFP69: encoding protein Zfp69 zinc finger protein

ZMYM1 encoding protein Zinc finger MYM-type containing 1

ZNF436: Zinc finger protein 436

ZNF684: encoding protein Zinc finger protein 684

ZYG11B encoding protein Zyg-11 family member B, cell cycle regulator

ZZZ3: ZZ-type zinc finger-containing protein 3


Partial list of the genes located on q-arm (long arm) of human chromosome 1:

ABL2 (1q25)

ADIPOR1 (1q32)

AHCTF1: encoding protein ELYS

AKT3 (1q43-44)

ANGPTL1: Angiopoietin-related protein 1

ARHGEF2 (1q22)

ARID4B: encoding protein AT-rich interactive domain-containing protein 4B

ARV1 encoding protein ARV1 homolog (S. cerevisiae)

ARNT (1q21)

ASPM (1q31): a brain size determinant

ATF3 (1q32)

ATP2B4 (1q32)

BCL9 (1q21)

CATSPERE: encoding protein Catsper channel auxiliary subunit epsilon

C1orf21: chromosome 1 open reading frame 21

MMTAP2 encoding protein Multiple myeloma tumor-associated protein 2

TEX35: TEX35

C1orf74: chromosome 1 open reading frame 74

C2CD4D: C2 calcium-dependent domain-containing 4D

CD5L: CD5 molecule like

CENPL: Centromere protein L

CENPF (1q41)

CHTOP: Chromatin target of prmt1

CNIH4: cornichon homolog 4

CNST: Consortin

CREG1: Cellular repressor of E1A stimulated genes 1

CRP: C-reactive protein

CRTC2 (1q21)

CSRP1: Cysteine and glycine rich protein 1

DCAF8: encoding protein DDB1 and CUL4 associated factor 8

DDX59: DEAD-box helicase 59

DEL1Q21: encoding protein Chromosome 1q21.1 deletion syndrome

DPT: Dermatopontin

DISC2, long non-coding RNA

DNAH14 encoding protein Dynein, axonemal, heavy chain 14

DUSP10 (1q41)

DUSP27: encoding protein Dual specificity phosphatase 27 (putative)

ECM1 (1q21)

EDEM3: ER degradation enhancing alpha-mannosidase like protein 3

EGLN1 (1q42)

ELF3: encoding protein E74 like ets transcription factor 3

ENAH (1q42)

ESRRG (1q41)

FAM129A: family with sequence similarity 129, member A

FAM163A: encoding protein neuroblastoma-derived secretory protein

FAM20B: FAM20B, glycosaminoglycan xylosylkinase

FAM63A: Family with sequence similarity 63, member A

FAM78B: family with sequence similarity 78, member B

FAM89A: encoding protein Fam89A

FBXO28: F-box protein 28

FCMR: Fc fragment of IgM receptor

FCGR2B (1q23)

FCGR2C: encoding protein Fc fragment of igg receptor iic (gene/pseudogene)

FH (1q43): fumarase

FLAD1: encoding protein Flavin adenine dinucleotide synthetase 1

FLG-AS1: encoding protein FLG antisense RNA 1

FMO3: flavin containing monooxygenase 3

FRA1J encoding protein Fragile site, 5-azacytidine type, common, fra(1)(q12)

G0S2: encoding G0/G1 switch 2

GAS5 (1q25)

GBA: glucosidase, beta; acid (includes glucosylceramidase) (gene for Gaucher disease)

GBAP1: glucosylceramidase beta pseudogene 1

GLC1A: gene for glaucoma

GON4L: gon-4 like

GPA33 (1q24)

GPR37L1 G protein-coupled receptor 37 like 1

H3C13: encoding protein Histone cluster 2 h3 family member d

HEATR1: HEAT repeat-containing protein 1

HFE2: hemochromatosis type 2 (juvenile)

HIST2H2AB: Histone 2A type 2-B

HIST2H2BF: Histone H2B type 2-F

HIST2H3PS2: Histone cluster 2, H3, pseudogene 2

HIST3H2A: Histone H2A type 3

HIST3H2BB: Histone H2B type 3-B

HRM2: Hair, curly

IGSF8 (1q23)

INAVA: Innate immunity activator protein

INTS3: Integrator complex subunit 3

IRF2BP2: encoding protein Interferon regulatory factor 2 binding protein 2

IRF6: gene for connective tissue formation

KCNH1 (1q32)

KIF14 (1q32)

LEFTY1: Left-right determination factor 1

LHX9 encoding protein LIM homeobox 9

LMNA: lamin A/C

LMOD1: encoding protein Leiomodin 1

LOC645166 encoding protein Lymphocyte-specific protein 1 pseudogene

LYPLAL1: Lysophospholipase-like 1

MAPKAPK2 (1q32)

MIR194-1: microRNA 194-1

MIR5008: microRNA 5008

MPC2: Mitochondrial pyruvate carrier 2

MOSC1: MOCO sulphurase C-terminal domain containing 1

MOSC2: MOSC domain-containing protein 2, mitochondrial

MPZ: myelin protein zero (Charcot–Marie–Tooth neuropathy 1B)

MSTO1: misato 1

MTR: 5-methyltetrahydrofolate-homocysteine methyltransferase

NAV1: Neuron navigator 1

NBPF16: Neuroblastoma breakpoint family, member 16

NOC2L: Nucleolar complex protein 2 homolog

NUCKS1: Nuclear ubiquitous casein and cyclin-dependent kinases substrate

NVL: Nuclear valosin-containing protein-like

OLFML2B: Olfactomedin-like 2B

OPTC: Opticin

OTUD7B: OTU domain-containing protein 7B

PACERR encoding protein PTGS2 antisense NFKB1 complex-mediated expression regulator RNA

PBX1 (1q23)

PEA15 (1q23)

PGDB5: PiggyBac transposable element derived 5

PIAS3 (1q21)

PI4KB: Phosphatidylinositol 4-kinase beta

PIP5K1A (1q21): Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha

PLA2G4A (1q31)

PPOX: protoporphyrinogen oxidase

PRCC (1q23)

PRR9 encoding protein Proline rich 9

PSEN2 (1q42): presenilin 2 (Alzheimer disease 4)

PTGS2 (1q31)

PTPN14 (1q32-41)

PTPN7 (1q32)

RABIF: RAB interacting factor

RASSF5 (1q32)

RGS2 (1q31)

RN5S1@: RNA, 5S ribosomal 1q42 cluster

RPS27 (1q21)

SCAMP3: Secretory carrier-associated membrane protein 3

SDHC (1q23)

SELE (1q24)

SFT2D2: encoding protein Sft2 domain containing 2

SHC1 (1q21)

SHCBP1L: encoding protein Shc binding and spindle associated 1 like

SLC30A10: encoding protein Solute carrier family 30 member 10

SLC39A1 (1q21)

SLC50A1: Solute carrier family 50 member 1

SMCP: Sperm mitochondrial-associated cysteine-rich protein

SMG7: nonsense mediated mRNA decay factor

SMYD3 (1q44)


SPRR1A: Cornifin-A

SPRR1B: Cornifin-B

SPRR2A: Small proline rich protein 2A

SPRTN: Spartan

TARBP1: TAR (HIV-1) RNA-binding protein 1

TBCE: Tubulin-specific chaperone E

THBS3: Thrombospondin 3

TMCO1: Transmembrane and coiled-coil domain-containing protein 1

TMEM9: Transmembrane protein 9

TMEM63A: Transmembrane protein 63A

TMEM81: Transmembrane protein 81

TNFAIP8L2: encoding TNF alpha induced protein 8 like 2

TNFSF18 (1q25)

TNNT2: cardiac troponin T2

TOR1AIP1: Torsin-1A-interacting protein 1

TOR3A: encoding protein Torsin family 3 member A

TP53BP2 (1q41)

TRE-CTC1-5: Transfer RNA-Glu (CTC) 1-5

UAP1: UDP-N-acetylhexosamine pyrophosphorylase

USH2A: Usher syndrome 2A (autosomal recessive, mild)

USF1 (1q23)

VANGL2: encoding protein VANGL planar cell polarity protein 2

VPS45: Vacuolar protein sorting-associated protein 45

VPS72: Vacuolar protein sorting-associated protein 72

YY1AP1: YY1-associated protein 1

ZBED6: zinc finger, BED-type containing 6

ZC3H11A: Zinc finger CCCH domain-containing protein 11A

ZNF648 encoding protein Zinc finger protein 648

ZNF669: Zinc finger protein 669

ZNF687: Zinc finger protein 687

ZNF692: Zinc finger protein 692

ZNF695: Zinc finger protein 695

There are 890 known diseases related to chromosome 1.

Some of these diseases are hearing loss, Alzheimer’s disease, glaucoma and breast cancer. 

Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. 

The following diseases are some of those related to genes on chromosome 1, which contains the most known genetic diseases of any human chromosome.

1q21.1 deletion syndrome

1q21.1 duplication syndrome

Alzheimer’s disease

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

Breast cancer

Brooke Greenberg Disease (Syndrome X)

Carnitine palmitoyltransferase II deficiency

Charcot–Marie–Tooth disease, types 1 and 2

collagenopathy, types II and XI

congenital hypothyroidism

Ehlers-Danlos syndrome

Factor V Leiden thrombophilia

Familial adenomatous polyposis


Gaucher disease

Gaucher-like disease

Gelatinous drop-like corneal dystrophy


GLUT1 deficiency syndrome

Hearing loss, autosomal recessive deafness 


Hepatoerythropoietic porphyria


Hutchinson Gilford progeria syndrome

3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Hypertrophic cardiomyopathy, autosomal dominant mutations of TNNT2; hypertrophy usually mild; restrictive phenotype may be present; may carry high risk of sudden cardiac death

maple syrup urine disease

medium-chain acyl-coenzyme A dehydrogenase deficiency


Muckle–Wells syndrome

Nonsyndromic deafness


Parkinson disease



porphyria cutanea tarda

popliteal pterygium syndrome

prostate cancer

Stickler syndrome

TAR syndrome


Usher syndrome

Usher syndrome type II

Van der Woude syndrome

Variegate porphyria

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