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Reviewed, UniProtKB/Swiss-Prot Q9NRI5 (DISC1_HUMAN)

Last modified February 9, 2010. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Disrupted in schizophrenia 1 protein
Gene names
Name: DISC1
Synonyms: KIAA0457
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length854 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level.

General annotation (Comments)

Subunit structure

Interacts with tubulin alpha, ACTN2, ANKHD1, ATF4, ATF5, CEP63, EIF3S3, MAP1A, NDEL1, PAFAH1B1, RANBP9, SPTBN4, SYNE1 and TRAF3IP1. Interaction with microtubules may be mediated in part by TRAF3IP1. Ref.6 Ref.8 Ref.11

Subcellular location

Cytoplasm. Cytoplasmcytoskeletoncentrosome. Cytoplasmcytoskeleton. Note: Localizes to neurites By similarity. Localizes to punctate cytoplasmic foci which overlap in part with mitochondria. Also localizes to the centrosome. Ref.6 Ref.8 Ref.11 Ref.12

Tissue specificity

Ubiquitous. Highly expressed in the dentate gyrus of the hippocampus. Also expressed in the temporal and parahippocampal cortices and cells of the white matter. Ref.14

Developmental stage

Expression rises within the dentate gyrus and temporal cortex from the neonatal period to infancy, declines markedly in adolescence, and declines further with aging. Ref.14

Involvement in disease

A chromosomal aberration involving DISC1 segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Translocation t(1;11)(q42.1;q14.3). The truncated DISC1 protein produced by this translocation is unable to interact with ATF4, ATF5 and NDEL1.

Genetic variation in DISC1 may be associated with susceptibility to schizophrenia 9 (SCZD9) [MIM:604906]. Schizophrenia [MIM:181500] is a psychosis, a disorder of thought and sense of self. Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. No objective biological test for schizophrenia exists. Schizophrenia is a common disorder with a lifetime prevalence of approximately 1%. It is highly heritable but the genetics are complex. Ref.5 Ref.7 Ref.10 Ref.13

Genetic variation in DISC1 may be associated with susceptibility to schizoaffective disorder [MIM:181500]. Schizoaffective disorder is a psychiatric condition characterized by the co-occurrence of symptoms of both mood disorder and psychosis.

Sequence caution

The sequence CAH70955.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI15677.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI17204.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI21886.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI22543.1 differs from that shown. Reason: Erroneous gene model prediction.

The sequence CAI23013.1 differs from that shown. Reason: Erroneous gene model prediction.

Ontologies

Keywords
   Cellular componentCytoplasm
Cytoskeleton
Microtubule
   Coding sequence diversityAlternative splicing
Chromosomal rearrangement
Polymorphism
   DomainCoiled coil
   Technical termComplete proteome
Gene Ontology (GO)
   Cellular componentmicrotubule

Inferred from electronic annotation. Source: UniProtKB-KW

microtubule organizing center

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionprotein binding Ref.1 Ref.6

Inferred from physical interaction. Source: IntAct

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9NRI5-1)

Also known as: L;

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9NRI5-2)

Also known as: LV;

The sequence of this isoform differs from the canonical sequence as follows:
     748-769: Missing.
Isoform 3 (identifier: Q9NRI5-3)

Also known as: S;

The sequence of this isoform differs from the canonical sequence as follows:
     661-678: ETSVKENTMKYMETLKNK → GYKYCDAESWTQRSQQLA
     679-854: Missing.
Isoform 4 (identifier: Q9NRI5-4)

Also known as: ES;

The sequence of this isoform differs from the canonical sequence as follows:
     350-369: VISLRLKLQKLQEDAVENDD → LEPIALDPPWKPRHPEPNSY
     370-854: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 854854Disrupted in schizophrenia 1 protein
PRO_0000079916

Regions

Region1 – 292292Interaction with MAP1A
Region293 – 696404Interaction with TRAF3IP1
Region440 – 597158Required for localization to punctate cytoplasmic foci
Region598 – 854257Interaction with ATF4 and ATF5
Region727 – 854128Interaction with NDEL1 and PAFAH1B1
Coiled coil366 – 39429 Potential
Coiled coil452 – 50554 Potential
Coiled coil602 – 66665 Potential
Coiled coil802 – 83029 Potential

Natural variations

Alternative sequence350 – 36920VISLR…VENDD → LEPIALDPPWKPRHPEPNSY in isoform 4.
VSP_019314
Alternative sequence370 – 854485Missing in isoform 4.
VSP_019315
Alternative sequence661 – 67818ETSVK…TLKNK → GYKYCDAESWTQRSQQLA in isoform 3.
VSP_019316
Alternative sequence679 – 854176Missing in isoform 3.
VSP_019317
Alternative sequence748 – 76922Missing in isoform 2.
VSP_003849
Natural variant51G → V: dbSNP rs3738400. Ref.10
VAR_030422
Natural variant1161A → V: dbSNP rs56020408.
VAR_061642
Natural variant2641R → Q: dbSNP rs3738401. Ref.1 Ref.2 Ref.3
VAR_022437
Natural variant3281T → N: dbSNP rs55795950.
VAR_061643
Natural variant3301L → F: dbSNP rs34622148.
VAR_050954
Natural variant5311G → R: dbSNP rs56229136.
VAR_061644
Natural variant6071L → F Associated with susceptibility to schizoaffective disorder. dbSNP rs6675281. Ref.10
VAR_026704
Natural variant7041S → C: dbSNP rs821616. Ref.13 Ref.1
VAR_022438

Experimental info

Mutagenesis8151L → P: Impairs interaction with NDEL1; when associated with P-822. Ref.11
Mutagenesis8221L → P: Impairs interaction with NDEL1; when associated with P-815. Ref.11

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 (L) [UniParc].

Last modified November 13, 2007. Version 3.
Checksum: 63C3FDF2F59830C6

FASTA85493,611
        10         20         30         40         50         60 
MPGGGPQGAP AAAGGGGVSH RAGSRDCLPP AACFRRRRLA RRPGYMRSST GPGIGFLSPA 

        70         80         90        100        110        120 
VGTLFRFPGG VSGEESHHSE SRARQCGLDS RGLLVRSPVS KSAAAPTVTS VRGTSAHFGI 

       130        140        150        160        170        180 
QLRGGTRLPD RLSWPCGPGS AGWQQEFAAM DSSETLDASW EAACSDGARR VRAAGSLPSA 

       190        200        210        220        230        240 
ELSSNSCSPG CGPEVPPTPP GSHSAFTSSF SFIRLSLGSA GERGEAEGCP PSREAESHCQ 

       250        260        270        280        290        300 
SPQEMGAKAA SLDGPHEDPR CLSRPFSLLA TRVSADLAQA ARNSSRPERD MHSLPDMDPG 

       310        320        330        340        350        360 
SSSSLDPSLA GCGGDGSSGS GDAHSWDTLL RKWEPVLRDC LLRNRRQMEV ISLRLKLQKL 

       370        380        390        400        410        420 
QEDAVENDDY DKAETLQQRL EDLEQEKISL HFQLPSRQPA LSSFLGHLAA QVQAALRRGA 

       430        440        450        460        470        480 
TQQASGDDTH TPLRMEPRLL EPTAQDSLHV SITRRDWLLQ EKQQLQKEIE ALQARMFVLE 

       490        500        510        520        530        540 
AKDQQLRREI EEQEQQLQWQ GCDLTPLVGQ LSLGQLQEVS KALQDTLASA GQIPFHAEPP 

       550        560        570        580        590        600 
ETIRSLQERI KSLNLSLKEI TTKVCMSEKF CSTLRKKVND IETQLPALLE AKMHAISGNH 

       610        620        630        640        650        660 
FWTAKDLTEE IRSLTSEREG LEGLLSKLLV LSSRNVKKLG SVKEDYNRLR REVEHQETAY 

       670        680        690        700        710        720 
ETSVKENTMK YMETLKNKLC SCKCPLLGKV WEADLEACRL LIQSLQLQEA RGSLSVEDER 

       730        740        750        760        770        780 
QMDDLEGAAP PIPPRLHSED KRKTPLKVLE EWKTHLIPSL HCAGGEQKEE SYILSAELGE 

       790        800        810        820        830        840 
KCEDIGKKLL YLEDQLHTAI HSHDEDLIQS LRRELQMVKE TLQAMILQLQ PAKEAGEREA 

       850 
AASCMTAGVH EAQA 

« Hide

Isoform 2 (LV).

Checksum: D114C31463B18770
Show »

FASTA83291,124
Isoform 3 (S).

Checksum: F2E931A9DB718741
Show »

FASTA67873,916
Isoform 4 (ES).

Checksum: 615ECB993C80B9CB
Show »

FASTA36938,585

References

« Hide 'large scale' references
[1]"Disruption of two novel genes by a schizophrenia-linked translocation."
Millar J.K., Wilson-Annan J.C., Anderson S., Christie S., Taylor M.S., Semple C.A.M., Devon R.S., St Clair D.M., Muir W.J., Blackwood D.H.R., Porteous D.J.
Hum. Mol. Genet. 9:1415-1423(2000) [PubMed: 10814723] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANTS GLN-264 AND CYS-704.
[2]"Evolutionary constraints on the Disrupted in Schizophrenia locus."
Taylor M.S., Devon R.S., Millar J.K., Porteous D.J.
Genomics 81:67-77(2003) [PubMed: 12573262] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4), VARIANT GLN-264.
Tissue: Fetal heart.
[3]"Characterization of cDNA clones in size-fractionated cDNA libraries from human brain."
Seki N., Ohira M., Nagase T., Ishikawa K., Miyajima N., Nakajima D., Nomura N., Ohara O.
DNA Res. 4:345-349(1997) [PubMed: 9455484] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT GLN-264.
Tissue: Brain.
[4]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed: 16710414] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"Chromosome 1 loci in Finnish schizophrenia families."
Ekelund J., Hovatta I., Parker A., Paunio T., Varilo T., Martin R., Suhonen J., Ellonen P., Chan G., Sinsheimer J.S., Sobel E., Juvonen H., Arajaervi R., Partonen T., Suvisaari J., Loennqvist J., Meyer J., Peltonen L.
Hum. Mol. Genet. 10:1611-1617(2001) [PubMed: 11468279] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9.
[6]"DISC1 (Disrupted-In-Schizophrenia 1) is a centrosome-associated protein that interacts with MAP1A, MIPT3, ATF4/5 and NUDEL: regulation and loss of interaction with mutation."
Morris J.A., Kandpal G., Ma L., Austin C.P.
Hum. Mol. Genet. 12:1591-1608(2003) [PubMed: 12812986] [Abstract]
Cited for: INTERACTION WITH ACTN2; ANKHD1; ATF4; ATF5; CEP63; EIF3S3; MAP1A; MICROTUBULES; NDEL1; RANBP9; SPTBN4; SYNE1 AND TRAF3IP1, SUBCELLULAR LOCATION.
[7]"Haplotype transmission analysis provides evidence of association for DISC1 to schizophrenia and suggests sex-dependent effects."
Hennah W., Varilo T., Kestilae M., Paunio T., Arajaervi R., Haukka J., Parker A., Martin R., Levitzky S., Partonen T., Meyer J., Loennqvist J., Peltonen L., Ekelund J.
Hum. Mol. Genet. 12:3151-3159(2003) [PubMed: 14532331] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9.
[8]"Disrupted-in-Schizophrenia-1 (DISC-1): mutant truncation prevents binding to NudE-like (NUDEL) and inhibits neurite outgrowth."
Ozeki Y., Tomoda T., Kleiderlein J., Kamiya A., Bord L., Fujii K., Okawa M., Yamada N., Hatten M.E., Snyder S.H., Ross C.A., Sawa A.
Proc. Natl. Acad. Sci. U.S.A. 100:289-294(2003) [PubMed: 12506198] [Abstract]
Cited for: INTERACTION WITH NDEL1, SUBCELLULAR LOCATION.
[9]Erratum
Ozeki Y., Tomoda T., Kleiderlein J., Kamiya A., Bord L., Fujii K., Okawa M., Yamada N., Hatten M.E., Snyder S.H., Ross C.A., Sawa A.
Proc. Natl. Acad. Sci. U.S.A. 101:13969-13969(2004)
[10]"Disrupted in schizophrenia 1 (DISC1): association with schizophrenia, schizoaffective disorder, and bipolar disorder."
Hodgkinson C.A., Goldman D., Jaeger J., Persaud S., Kane J.M., Lipsky R.H., Malhotra A.K.
Am. J. Hum. Genet. 75:862-872(2004) [PubMed: 15386212] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9 AND SCHIZOAFFECTIVE DISORDER, VARIANTS VAL-5 AND PHE-607.
[11]"Disrupted in Schizophrenia 1 and Nudel form a neurodevelopmentally regulated protein complex: implications for schizophrenia and other major neurological disorders."
Brandon N.J., Handford E.J., Schurov I., Rain J.-C., Pelling M., Duran-Jimeniz B., Camargo L.M., Oliver K.R., Beher D., Shearman M.S., Whiting P.J.
Mol. Cell. Neurosci. 25:42-55(2004) [PubMed: 14962739] [Abstract]
Cited for: INTERACTION WITH TUBULIN ALPHA; NDEL1 AND PAFAH1B1, SUBCELLULAR LOCATION, MUTAGENESIS OF LEU-815 AND LEU-822.
[12]"Subcellular targeting of DISC1 is dependent on a domain independent from the Nudel binding site."
Brandon N.J., Schurov I., Camargo L.M., Handford E.J., Duran-Jimeniz B., Hunt P., Millar J.K., Porteous D.J., Shearman M.S., Whiting P.J.
Mol. Cell. Neurosci. 28:613-624(2005) [PubMed: 15797709] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[13]"Variation in DISC1 affects hippocampal structure and function and increases risk for schizophrenia."
Callicott J.H., Straub R.E., Pezawas L., Egan M.F., Mattay V.S., Hariri A.R., Verchinski B.A., Meyer-Lindenberg A., Balkissoon R., Kolachana B., Goldberg T.E., Weinberger D.R.
Proc. Natl. Acad. Sci. U.S.A. 102:8627-8632(2005) [PubMed: 15939883] [Abstract]
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO SCZD9, VARIANT CYS-704.
[14]"Expression of DISC1 binding partners is reduced in schizophrenia and associated with DISC1 SNPs."
Lipska B.K., Peters T., Hyde T.M., Halim N., Horowitz C., Mitkus S., Weickert C.S., Matsumoto M., Sawa A., Straub R.E., Vakkalanka R., Herman M.M., Weinberger D.R., Kleinman J.E.
Hum. Mol. Genet. 15:1245-1258(2006) [PubMed: 16510495] [Abstract]
Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF222983 Genomic DNA. Translation: AAF73874.1.
AF222987 Genomic DNA. Translation: AAF73877.1.
AF222980 mRNA. Translation: AAF73889.1.
AJ506178 mRNA. Translation: CAD44628.1.
AJ506177 mRNA. Translation: CAD44631.1.
AB007926 mRNA. Translation: BAA32302.1. Different initiation.
AL626763 expand/collapse EMBL AC list , AL136171, AL161743, AL359543, AL445200, AL450284 Genomic DNA. Translation: CAH70955.1. Sequence problems.
AL626763 expand/collapse EMBL AC list , AL136171, AL359543, AL450284 Genomic DNA. Translation: CAH70956.1.
AL626763, AL359543 Genomic DNA. Translation: CAH70957.1.
AL450284 expand/collapse EMBL AC list , AL136171, AL161743, AL359543, AL445200, AL626763 Genomic DNA. Translation: CAI15677.1. Sequence problems.
AL450284 expand/collapse EMBL AC list , AL136171, AL359543, AL626763 Genomic DNA. Translation: CAI15679.1.
AL359543 expand/collapse EMBL AC list , AL136171, AL161743, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI17204.1. Sequence problems.
AL359543 expand/collapse EMBL AC list , AL136171, AL450284, AL626763 Genomic DNA. Translation: CAI17206.1.
AL359543, AL626763 Genomic DNA. Translation: CAI17207.1.
AL136171 expand/collapse EMBL AC list , AL161743, AL359543, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI21886.1. Sequence problems.
AL136171 expand/collapse EMBL AC list , AL359543, AL450284, AL626763 Genomic DNA. Translation: CAI21888.1.
AL161743 expand/collapse EMBL AC list , AL136171, AL359543, AL445200, AL450284, AL626763 Genomic DNA. Translation: CAI22543.1. Sequence problems.
AL445200 expand/collapse EMBL AC list , AL136171, AL161743, AL359543, AL450284, AL626763 Genomic DNA. Translation: CAI23013.1. Sequence problems.
IPIIPI00032896.
IPI00217534.
IPI00554636.
IPI00935747.
PIRT00071.
RefSeqNP_001012975.1.
NP_001012976.1.
NP_001012977.1.
NP_061132.2.
UniGeneHs.13318

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActQ9NRI5. 101 interactions.
STRINGQ9NRI5.

Genome annotation databases

EnsemblENST00000439617; ENSP00000403888; ENSG00000162946; Homo sapiens. [Genome view]
GeneID27185.
KEGGhsa:27185.
UCSCuc001hux.1. human.
uc001huy.1. human.
uc001huz.1. human.
uc001hva.1. human.

Organism-specific databases

CTD27185.
GeneCardsGC01P229829.
H-InvDBHIX0022179.
HGNCHGNC:2888. DISC1.
HPACAB013016.
MIM181500. phenotype.
604906. phenotype.
605210. gene.
Orphanet3140. Schizophrenia.
PharmGKBPA27342.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG14289.
HOVERGENQ9NRI5.

Gene expression databases

ArrayExpressQ9NRI5.
BgeeQ9NRI5.
GenevestigatorQ9NRI5.
GermOnlineENSG00000162946. Homo sapiens.

Family and domain databases

InterProIPR009053. Prefoldin.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio50024.
SOURCESearch...

Entry information

Entry nameDISC1_HUMAN
AccessionPrimary (citable) accession number: Q9NRI5
Secondary accession number(s): O75045 expand/collapse secondary AC list , Q5VT44, Q5VT45, Q8IXJ0, Q8IXJ1, Q9BX19, Q9NRI3, Q9NRI4
Entry history
Integrated into UniProtKB/Swiss-Prot: November 16, 2001
Last sequence update: November 13, 2007
Last modified: February 9, 2010
This is version 77 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents