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Q96LT7

- CI072_HUMAN

UniProt

Q96LT7 - CI072_HUMAN

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Protein

Protein C9orf72

Gene

C9orf72

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

May play a role in endosomal trafficking and autophagy.1 Publication

GO - Molecular functioni

  1. Rab GTPase binding Source: UniProtKB

GO - Biological processi

  1. autophagy Source: UniProtKB
  2. cell death Source: UniProtKB-KW
  3. endocytosis Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Protein C9orf72
Gene namesi
Name:C9orf72
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:28337. C9orf72.

Subcellular locationi

Nucleus. Cytoplasm. Endosome. Lysosome. Cytoplasmic vesicleautophagosome. Secreted
Note: Detected in the cytoplasm of neurons from post mortem brain tissue (PubMed:21944778). Detected in the nucleus in fibroblasts (PubMed:21944779).2 Publications

GO - Cellular componenti

  1. autophagic vacuole Source: UniProtKB
  2. cytoplasmic vesicle Source: UniProtKB-KW
  3. endosome Source: UniProtKB
  4. extracellular space Source: UniProtKB
  5. lysosome Source: UniProtKB
  6. nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoplasmic vesicle, Endosome, Lysosome, Nucleus, Secreted

Pathology & Biotechi

Involvement in diseasei

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 (FTDALS1) [MIM:105550]: An autosomal dominant neurodegenerative disorder characterized by adult onset of frontotemporal dementia and/or amyotrophic lateral sclerosis in an affected individual. There is high intrafamilial variation. Frontotemporal dementia is characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Amyotrophic lateral sclerosis is characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry. In the first intron of the gene, the expansion of a GGGGCC hexanucleotide that can vary from 10 to thousands of repeats, represents the most common genetic cause of both familial and sporadic FTDALS. The hexanucleotide repeat expansion (HRE) is structurally polymorphic and during transcription, is responsible for the formation of RNA and DNA G-quadruplexes resulting in the production of aborted transcripts at the expense of functional transcripts. The accumulation of those aborted transcripts may cause nucleolar stress and indirectly cell death (PubMed:24598541).1 Publication

Keywords - Diseasei

Amyotrophic lateral sclerosis, Neurodegeneration

Organism-specific databases

MIMi105550. phenotype.
Orphaneti803. Amyotrophic lateral sclerosis.
275864. Behavioral variant of frontotemporal dementia.
275872. Frontotemporal dementia with motor neuron disease.
401901. Huntington disease-like syndrome due to C9ORF72 expansions.
100070. Progressive non-fluent aphasia.
100069. Semantic dementia.
PharmGKBiPA134908144.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 481481Protein C9orf72PRO_0000089711Add
BLAST

Proteomic databases

MaxQBiQ96LT7.
PaxDbiQ96LT7.
PRIDEiQ96LT7.

PTM databases

PhosphoSiteiQ96LT7.

Expressioni

Tissue specificityi

Both isoforms are widely expressed, including kidney, lung, liver, heart, testis and several brain regions, such as cerebellum. Also expressed in the frontal cortex and in lymphoblasts (at protein level).2 Publications

Gene expression databases

BgeeiQ96LT7.
CleanExiHS_C9orf72.
ExpressionAtlasiQ96LT7. baseline and differential.
GenevestigatoriQ96LT7.

Organism-specific databases

HPAiHPA023873.

Interactioni

Subunit structurei

Interacts with HNRNPA1, HNRNPA2B1 and UBQLN2. Interacts with small Rab GTPases including RAB1A and RAB7A.1 Publication

Protein-protein interaction databases

BioGridi128456. 5 interactions.
IntActiQ96LT7. 3 interactions.
STRINGi9606.ENSP00000369339.

Structurei

3D structure databases

ProteinModelPortaliQ96LT7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Phylogenomic databases

eggNOGiNOG40002.
GeneTreeiENSGT00390000005644.
HOGENOMiHOG000231721.
HOVERGENiHBG060354.
InParanoidiQ96LT7.
OMAiAQDTIIY.
OrthoDBiEOG7H1JJZ.
PhylomeDBiQ96LT7.
TreeFamiTF313315.

Family and domain databases

InterProiIPR027819. C9orf72-like.
[Graphical view]
PfamiPF15019. C9orf72-like. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96LT7-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MSTLCPPPSP AVAKTEIALS GKSPLLAATF AYWDNILGPR VRHIWAPKTE
60 70 80 90 100
QVLLSDGEIT FLANHTLNGE ILRNAESGAI DVKFFVLSEK GVIIVSLIFD
110 120 130 140 150
GNWNGDRSTY GLSIILPQTE LSFYLPLHRV CVDRLTHIIR KGRIWMHKER
160 170 180 190 200
QENVQKIILE GTERMEDQGQ SIIPMLTGEV IPVMELLSSM KSHSVPEEID
210 220 230 240 250
IADTVLNDDD IGDSCHEGFL LNAISSHLQT CGCSVVVGSS AEKVNKIVRT
260 270 280 290 300
LCLFLTPAER KCSRLCEAES SFKYESGLFV QGLLKDSTGS FVLPFRQVMY
310 320 330 340 350
APYPTTHIDV DVNTVKQMPP CHEHIYNQRR YMRSELTAFW RATSEEDMAQ
360 370 380 390 400
DTIIYTDESF TPDLNIFQDV LHRDTLVKAF LDQVFQLKPG LSLRSTFLAQ
410 420 430 440 450
FLLVLHRKAL TLIKYIEDDT QKGKKPFKSL RNLKIDLDLT AEGDLNIIMA
460 470 480
LAEKIKPGLH SFIFGRPFYT SVQERDVLMT F

Note: Encoded by 2 transcripts differing in the 5' non-coding region.

Length:481
Mass (Da):54,328
Last modified:July 19, 2005 - v2
Checksum:iB36C5576B3D268CE
GO
Isoform 2 (identifier: Q96LT7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     222-222: N → K
     223-481: Missing.

Show »
Length:222
Mass (Da):24,759
Checksum:i068FE35DB48FE903
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti207 – 2071N → S.
Corresponds to variant rs17769294 [ dbSNP | Ensembl ].
VAR_050827

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei222 – 2221N → K in isoform 2. 1 PublicationVSP_014745
Alternative sequencei223 – 481259Missing in isoform 2. 1 PublicationVSP_014746Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JN681271 mRNA. Translation: AET41697.1.
AK057806 mRNA. Translation: BAB71583.1.
AK291425 mRNA. Translation: BAF84114.1.
AL451123 Genomic DNA. Translation: CAI13043.1.
AL451123 Genomic DNA. Translation: CAI13044.1.
CH471071 Genomic DNA. Translation: EAW58561.1.
CH471071 Genomic DNA. Translation: EAW58558.1.
CH471071 Genomic DNA. Translation: EAW58560.1.
BC068445 mRNA. Translation: AAH68445.1.
CCDSiCCDS6522.1. [Q96LT7-1]
CCDS6523.1. [Q96LT7-2]
RefSeqiNP_001242983.1. NM_001256054.1. [Q96LT7-1]
NP_060795.1. NM_018325.3. [Q96LT7-1]
NP_659442.2. NM_145005.5. [Q96LT7-2]
UniGeneiHs.493639.

Genome annotation databases

EnsembliENST00000379995; ENSP00000369331; ENSG00000147894. [Q96LT7-2]
ENST00000379997; ENSP00000369333; ENSG00000147894. [Q96LT7-2]
ENST00000380003; ENSP00000369339; ENSG00000147894. [Q96LT7-1]
ENST00000619707; ENSP00000482753; ENSG00000147894. [Q96LT7-1]
GeneIDi203228.
KEGGihsa:203228.
UCSCiuc003zqq.3. human. [Q96LT7-1]
uc003zqr.2. human. [Q96LT7-2]

Polymorphism databases

DMDMi71152412.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
JN681271 mRNA. Translation: AET41697.1 .
AK057806 mRNA. Translation: BAB71583.1 .
AK291425 mRNA. Translation: BAF84114.1 .
AL451123 Genomic DNA. Translation: CAI13043.1 .
AL451123 Genomic DNA. Translation: CAI13044.1 .
CH471071 Genomic DNA. Translation: EAW58561.1 .
CH471071 Genomic DNA. Translation: EAW58558.1 .
CH471071 Genomic DNA. Translation: EAW58560.1 .
BC068445 mRNA. Translation: AAH68445.1 .
CCDSi CCDS6522.1. [Q96LT7-1 ]
CCDS6523.1. [Q96LT7-2 ]
RefSeqi NP_001242983.1. NM_001256054.1. [Q96LT7-1 ]
NP_060795.1. NM_018325.3. [Q96LT7-1 ]
NP_659442.2. NM_145005.5. [Q96LT7-2 ]
UniGenei Hs.493639.

3D structure databases

ProteinModelPortali Q96LT7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 128456. 5 interactions.
IntActi Q96LT7. 3 interactions.
STRINGi 9606.ENSP00000369339.

PTM databases

PhosphoSitei Q96LT7.

Polymorphism databases

DMDMi 71152412.

Proteomic databases

MaxQBi Q96LT7.
PaxDbi Q96LT7.
PRIDEi Q96LT7.

Protocols and materials databases

DNASUi 203228.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000379995 ; ENSP00000369331 ; ENSG00000147894 . [Q96LT7-2 ]
ENST00000379997 ; ENSP00000369333 ; ENSG00000147894 . [Q96LT7-2 ]
ENST00000380003 ; ENSP00000369339 ; ENSG00000147894 . [Q96LT7-1 ]
ENST00000619707 ; ENSP00000482753 ; ENSG00000147894 . [Q96LT7-1 ]
GeneIDi 203228.
KEGGi hsa:203228.
UCSCi uc003zqq.3. human. [Q96LT7-1 ]
uc003zqr.2. human. [Q96LT7-2 ]

Organism-specific databases

CTDi 203228.
GeneCardsi GC09M027539.
GeneReviewsi C9orf72.
HGNCi HGNC:28337. C9orf72.
HPAi HPA023873.
MIMi 105550. phenotype.
614260. gene.
neXtProti NX_Q96LT7.
Orphaneti 803. Amyotrophic lateral sclerosis.
275864. Behavioral variant of frontotemporal dementia.
275872. Frontotemporal dementia with motor neuron disease.
401901. Huntington disease-like syndrome due to C9ORF72 expansions.
100070. Progressive non-fluent aphasia.
100069. Semantic dementia.
PharmGKBi PA134908144.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG40002.
GeneTreei ENSGT00390000005644.
HOGENOMi HOG000231721.
HOVERGENi HBG060354.
InParanoidi Q96LT7.
OMAi AQDTIIY.
OrthoDBi EOG7H1JJZ.
PhylomeDBi Q96LT7.
TreeFami TF313315.

Miscellaneous databases

ChiTaRSi C9orf72. human.
GenomeRNAii 203228.
NextBioi 90368.
SOURCEi Search...

Gene expression databases

Bgeei Q96LT7.
CleanExi HS_C9orf72.
ExpressionAtlasi Q96LT7. baseline and differential.
Genevestigatori Q96LT7.

Family and domain databases

InterProi IPR027819. C9orf72-like.
[Graphical view ]
Pfami PF15019. C9orf72-like. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Cited for: NUCLEOTIDE SEQUENCE [MRNA], INVOLVEMENT IN FTDALS1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
    Tissue: Frontal cortex.
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 318-418 (ISOFORM 1).
    Tissue: Brain and Cerebellum.
  3. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  6. "A hexanucleotide repeat expansion in C9orf72 is the cause of chromosome 9p21-linked ALS-FTD."
    Renton A.E., Majounie E., Waite A., Simon-Sanchez J., Rollinson S., Gibbs J.R., Schymick J.C., Laaksovirta H., van Swieten J.C., Myllykangas L., Kalimo H., Paetau A., Abramzon Y., Remes A.M., Kaganovich A., Scholz S.W., Duckworth J., Ding J.
    , Harmer D.W., Hernandez D.G., Johnson J.O., Mok K., Ryten M., Trabzuni D., Guerreiro R.J., Orrell R.W., Neal J., Murray A., Pearson J., Jansen I.E., Sondervan D., Seelaar H., Blake D., Young K., Halliwell N., Callister J.B., Toulson G., Richardson A., Gerhard A., Snowden J., Mann D., Neary D., Nalls M.A., Peuralinna T., Jansson L., Isoviita V.M., Kaivorinne A.L., Holtta-Vuori M., Ikonen E., Sulkava R., Benatar M., Wuu J., Chio A., Restagno G., Borghero G., Sabatelli M., Heckerman D., Rogaeva E., Zinman L., Rothstein J.D., Sendtner M., Drepper C., Eichler E.E., Alkan C., Abdullaev Z., Pack S.D., Dutra A., Pak E., Hardy J., Singleton A., Williams N.M., Heutink P., Pickering-Brown S., Morris H.R., Tienari P.J., Traynor B.J.
    Neuron 72:257-268(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN FTDALS1, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  7. "Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide."
    Garcia-Redondo A., Dols-Icardo O., Rojas-Garcia R., Esteban-Perez J., Cordero-Vazquez P., Munoz-Blanco J.L., Catalina I., Gonzalez-Munoz M., Varona L., Sarasola E., Povedano M., Sevilla T., Guerrero A., Pardo J., de Munain A.L., Marquez-Infante C., de Rivera F.J., Pastor P.
    , Jerico I., de Arcaya A.A., Mora J.S., Clarimon J., Gonzalo-Martinez J.F., Juarez-Rufian A., Atencia G., Jimenez-Bautista R., Moran Y., Mascias J., Hernandez-Barral M., Kapetanovic S., Garcia-Barcina M., Alcala C., Vela A., Ramirez-Ramos C., Galan L., Perez-Tur J., Quintans B., Sobrido M.J., Fernandez-Torron R., Poza J.J., Gorostidi A., Paradas C., Villoslada P., Larrode P., Capablo J.L., Pascual-Calvet J., Goni M., Morgado Y., Guitart M., Moreno-Laguna S., Rueda A., Martin-Estefania C., Cemillan C., Blesa R., Lleo A.
    Hum. Mutat. 34:79-82(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN FTDALS1.
  8. "C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking."
    Farg M.A., Sundaramoorthy V., Sultana J.M., Yang S., Atkinson R.A., Levina V., Halloran M.A., Gleeson P.A., Blair I.P., Soo K.Y., King A.E., Atkin J.D.
    Hum. Mol. Genet. 23:3579-3595(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN ENDOSOMAL TRAFFICKING, INTERACTION WITH RAB GTPASES; HNRNPA1; HNRNPA2B1 AND UBQLN2, SUBCELLULAR LOCATION.
  9. Cited for: PATHOLOGICAL MECHANISM.

Entry informationi

Entry nameiCI072_HUMAN
AccessioniPrimary (citable) accession number: Q96LT7
Secondary accession number(s): A8K5W0
, D3DRK6, G8I0B6, Q6NUS9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: July 19, 2005
Last modified: November 26, 2014
This is version 88 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3