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
p-arm
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
q-arm
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)
SPG23
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
galactosemia
Gaucher disease
Gaucher-like disease
Gelatinous drop-like corneal dystrophy
Glaucoma
GLUT1 deficiency syndrome
Hearing loss, autosomal recessive deafness
Hemochromatosis
Hepatoerythropoietic porphyria
Homocystinuria
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
Microcephaly
Muckle–Wells syndrome
Nonsyndromic deafness
Oligodendroglioma
Parkinson disease
Pheochromocytoma
porphyria
porphyria cutanea tarda
popliteal pterygium syndrome
prostate cancer
Stickler syndrome
TAR syndrome
trimethylaminuria
Usher syndrome
Usher syndrome type II
Van der Woude syndrome
Variegate porphyria