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Q6P1N0

- C2D1A_HUMAN

UniProt

Q6P1N0 - C2D1A_HUMAN

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Protein
Coiled-coil and C2 domain-containing protein 1A
Gene
CC2D1A, AKI1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Transcription factor that binds specifically to the DRE (dual repressor element) and represses HTR1A gene transcription in neuronal cells. The combination of calcium and ATP specifically inactivates the binding with FRE. May play a role in the altered regulation of HTR1A associated with anxiety and major depression. Mediates HDAC-independent repression of HTR1A promoter in neuronal cell. Performs essential function in controlling functional maturation of synapses By similarity. Plays distinct roles depending on its localization. When cytoplasmic, acts as a scaffold protein in the PI3K/PDK1/AKT pathway. Repressor of HTR1A when nuclear. In the centrosome, regulates spindle pole localization of the cohesin subunit SCC1/RAD21, thereby mediating centriole cohesion during mitosis.1 Publication

GO - Molecular functioni

  1. RNA polymerase II core promoter proximal region sequence-specific DNA binding Source: Ensembl
  2. RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription Source: Ensembl
  3. signal transducer activity Source: UniProtKB

GO - Biological processi

  1. positive regulation of I-kappaB kinase/NF-kappaB signaling Source: UniProtKB
  2. signal transduction Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Repressor

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil and C2 domain-containing protein 1A
Alternative name(s):
Akt kinase-interacting protein 1
Five prime repressor element under dual repression-binding protein 1
Short name:
FRE under dual repression-binding protein 1
Short name:
Freud-1
Putative NF-kappa-B-activating protein 023N
Gene namesi
Name:CC2D1A
Synonyms:AKI1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 19

Organism-specific databases

HGNCiHGNC:30237. CC2D1A.

Subcellular locationi

Cytoplasm. Nucleus. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome 2 Publications

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-SubCell
  2. extracellular vesicular exosome Source: UniProt
  3. microtubule organizing center Source: UniProtKB-SubCell
  4. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton, Nucleus

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 3 (MRT3) [MIM:608443]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Non-syndromic mental retardation patients do not manifest other clinical signs.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication

Keywords - Diseasei

Mental retardation

Organism-specific databases

MIMi608443. phenotype.
Orphaneti88616. Autosomal recessive nonsyndromic intellectual disability.
PharmGKBiPA142672197.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 951951Coiled-coil and C2 domain-containing protein 1A
PRO_0000239609Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei204 – 2041Phosphothreonine1 Publication
Modified residuei208 – 2081Phosphoserine; by CDK14 Publications
Modified residuei253 – 2531Phosphoserine1 Publication
Modified residuei455 – 4551Phosphoserine3 Publications

Post-translational modificationi

Phosphorylation on Ser-208 by CDK1 promotes spindle pole localization and association with SCC1/RAD21.

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ6P1N0.
PaxDbiQ6P1N0.
PRIDEiQ6P1N0.

PTM databases

PhosphoSiteiQ6P1N0.

Expressioni

Gene expression databases

BgeeiQ6P1N0.
CleanExiHS_CC2D1A.
GenevestigatoriQ6P1N0.

Organism-specific databases

HPAiCAB015220.
HPA005436.

Interactioni

Protein-protein interaction databases

BioGridi120212. 7 interactions.
IntActiQ6P1N0. 3 interactions.
MINTiMINT-4827481.
STRINGi9606.ENSP00000313601.

Structurei

3D structure databases

ProteinModelPortaliQ6P1N0.
SMRiQ6P1N0. Positions 656-790.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini642 – 755114C2
Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili346 – 39247 Reviewed prediction
Add
BLAST
Coiled coili484 – 51734 Reviewed prediction
Add
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi192 – 345154Pro-rich
Add
BLAST

Domaini

The C2 domain is required for the repression By similarity.

Sequence similaritiesi

Belongs to the CC2D1 family.
Contains 1 C2 domain.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG297234.
HOGENOMiHOG000285993.
HOVERGENiHBG100866.
InParanoidiQ6P1N0.
KOiK18260.
OMAiMERYHVA.
OrthoDBiEOG71G9TB.
PhylomeDBiQ6P1N0.
TreeFamiTF314229.

Family and domain databases

Gene3Di2.60.40.150. 1 hit.
InterProiIPR000008. C2_dom.
IPR006608. DM14.
[Graphical view]
PfamiPF00168. C2. 1 hit.
[Graphical view]
SMARTiSM00239. C2. 1 hit.
SM00685. DM14. 4 hits.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q6P1N0-1) [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

MHKRKGPPGP PGRGAAAARQ LGLLVDLSPD GLMIPEDGAN DEELEAEFLA    50
LVGGQPPALE KLKGKGPLPM EAIEKMASLC MRDPDEDEEE GTDEDDLEAD 100
DDLLAELNEV LGEEQKASET PPPVAQPKPE APHPGLETTL QERLALYQTA 150
IESARQAGDS AKMRRYDRGL KTLENLLASI RKGNAIDEAD IPPPVAIGKG 200
PASTPTYSPA PTQPAPRIAS APEPRVTLEG PSATAPASSP GLAKPQMPPG 250
PCSPGPLAQL QSRQRDYKLA ALHAKQQGDT TAAARHFRVA KSFDAVLEAL 300
SRGEPVDLSC LPPPPDQLPP DPPSPPSQPP TPATAPSTTE VPPPPRTLLE 350
ALEQRMERYQ VAAAQAKSKG DQRKARMHER IVKQYQDAIR AHKAGRAVDV 400
AELPVPPGFP PIQGLEATKP TQQSLVGVLE TAMKLANQDE GPEDEEDEVP 450
KKQNSPVAPT AQPKAPPSRT PQSGSAPTAK APPKATSTRA QQQLAFLEGR 500
KKQLLQAALR AKQKNDVEGA KMHLRQAKGL EPMLEASRNG LPVDITKVPP 550
APVNKDDFAL VQRPGPGLSQ EAARRYGELT KLIRQQHEMC LNHSNQFTQL 600
GNITETTKFE KLAEDCKRSM DILKQAFVRG LPTPTARFEQ RTFSVIKIFP 650
DLSSNDMLLF IVKGINLPTP PGLSPGDLDV FVRFDFPYPN VEEAQKDKTS 700
VIKNTDSPEF KEQFKLCINR SHRGFRRAIQ TKGIKFEVVH KGGLFKTDRV 750
LGTAQLKLDA LEIACEVREI LEVLDGRRPT GGRLEVMVRI REPLTAQQLE 800
TTTERWLVID PVPAAVPTQV AGPKGKAPPV PAPARESGNR SARPLHSLSV 850
LAFDQERLER KILALRQARR PVPPEVAQQY QDIMQRSQWQ RAQLEQGGVG 900
IRREYAAQLE RQLQFYTEAA RRLGNDGSRD AAKEALYRRN LVESELQRLR 950
R 951
Length:951
Mass (Da):104,062
Last modified:July 5, 2004 - v1
Checksum:i04D80124FC47729A
GO
Isoform 2 (identifier: Q6P1N0-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     819-819: Missing.

Note: No experimental confirmation available.

Show »
Length:950
Mass (Da):103,934
Checksum:i4A6B9FF39DECF316
GO

Sequence cautioni

The sequence BAA91029.1 differs from that shown. Reason: Aberrant splicing.
The sequence BAB15464.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti339 – 3391T → P.
Corresponds to variant rs11883041 [ dbSNP | Ensembl ].
VAR_026670
Natural varianti635 – 6351T → S.
Corresponds to variant rs2290663 [ dbSNP | Ensembl ].
VAR_026671
Natural varianti801 – 8011T → M.
Corresponds to variant rs2305777 [ dbSNP | Ensembl ].
VAR_026672

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei819 – 8191Missing in isoform 2.
VSP_019242

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti646 – 6461I → V in AAN04488. 1 Publication
Sequence conflicti824 – 8241K → E in BAC77355. 1 Publication
Sequence conflicti837 – 8371S → P in BAC77355. 1 Publication
Sequence conflicti906 – 9061A → T in BAC77355. 1 Publication
Sequence conflicti943 – 9431E → G in BAC77355. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF536205 mRNA. Translation: AAN04488.1.
AB097002 mRNA. Translation: BAC77355.1.
AK000248 mRNA. Translation: BAA91029.1. Sequence problems.
AK026371 mRNA. Translation: BAB15464.1. Different initiation.
BC048345 mRNA. Translation: AAH48345.1.
BC064981 mRNA. Translation: AAH64981.1.
CCDSiCCDS42512.1. [Q6P1N0-1]
RefSeqiNP_060191.3. NM_017721.4. [Q6P1N0-1]
XP_005260030.1. XM_005259973.1. [Q6P1N0-2]
UniGeneiHs.269592.

Genome annotation databases

EnsembliENST00000318003; ENSP00000313601; ENSG00000132024. [Q6P1N0-1]
ENST00000589606; ENSP00000467526; ENSG00000132024. [Q6P1N0-2]
GeneIDi54862.
KEGGihsa:54862.
UCSCiuc002mxo.2. human. [Q6P1N0-1]
uc002mxp.2. human. [Q6P1N0-2]

Polymorphism databases

DMDMi74737148.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF536205 mRNA. Translation: AAN04488.1 .
AB097002 mRNA. Translation: BAC77355.1 .
AK000248 mRNA. Translation: BAA91029.1 . Sequence problems.
AK026371 mRNA. Translation: BAB15464.1 . Different initiation.
BC048345 mRNA. Translation: AAH48345.1 .
BC064981 mRNA. Translation: AAH64981.1 .
CCDSi CCDS42512.1. [Q6P1N0-1 ]
RefSeqi NP_060191.3. NM_017721.4. [Q6P1N0-1 ]
XP_005260030.1. XM_005259973.1. [Q6P1N0-2 ]
UniGenei Hs.269592.

3D structure databases

ProteinModelPortali Q6P1N0.
SMRi Q6P1N0. Positions 656-790.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120212. 7 interactions.
IntActi Q6P1N0. 3 interactions.
MINTi MINT-4827481.
STRINGi 9606.ENSP00000313601.

PTM databases

PhosphoSitei Q6P1N0.

Polymorphism databases

DMDMi 74737148.

Proteomic databases

MaxQBi Q6P1N0.
PaxDbi Q6P1N0.
PRIDEi Q6P1N0.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000318003 ; ENSP00000313601 ; ENSG00000132024 . [Q6P1N0-1 ]
ENST00000589606 ; ENSP00000467526 ; ENSG00000132024 . [Q6P1N0-2 ]
GeneIDi 54862.
KEGGi hsa:54862.
UCSCi uc002mxo.2. human. [Q6P1N0-1 ]
uc002mxp.2. human. [Q6P1N0-2 ]

Organism-specific databases

CTDi 54862.
GeneCardsi GC19P014016.
HGNCi HGNC:30237. CC2D1A.
HPAi CAB015220.
HPA005436.
MIMi 608443. phenotype.
610055. gene.
neXtProti NX_Q6P1N0.
Orphaneti 88616. Autosomal recessive nonsyndromic intellectual disability.
PharmGKBi PA142672197.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG297234.
HOGENOMi HOG000285993.
HOVERGENi HBG100866.
InParanoidi Q6P1N0.
KOi K18260.
OMAi MERYHVA.
OrthoDBi EOG71G9TB.
PhylomeDBi Q6P1N0.
TreeFami TF314229.

Miscellaneous databases

ChiTaRSi CC2D1A. human.
GeneWikii CC2D1A.
GenomeRNAii 54862.
NextBioi 57750.
PROi Q6P1N0.
SOURCEi Search...

Gene expression databases

Bgeei Q6P1N0.
CleanExi HS_CC2D1A.
Genevestigatori Q6P1N0.

Family and domain databases

Gene3Di 2.60.40.150. 1 hit.
InterProi IPR000008. C2_dom.
IPR006608. DM14.
[Graphical view ]
Pfami PF00168. C2. 1 hit.
[Graphical view ]
SMARTi SM00239. C2. 1 hit.
SM00685. DM14. 4 hits.
[Graphical view ]
SUPFAMi SSF49562. SSF49562. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. Guo J.H., Chen L., Yu L.
    Submitted (AUG-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Kidney.
  2. "Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways."
    Matsuda A., Suzuki Y., Honda G., Muramatsu S., Matsuzaki O., Nagano Y., Doi T., Shimotohno K., Harada T., Nishida E., Hayashi H., Sugano S.
    Oncogene 22:3307-3318(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Lung fibroblast.
  3. "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] OF 254-606 AND 622-951 (ISOFORM 1).
    Tissue: Ovary.
  4. "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: Brain and Ovary.
  5. "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells."
    Rush J., Moritz A., Lee K.A., Guo A., Goss V.L., Spek E.J., Zhang H., Zha X.-M., Polakiewicz R.D., Comb M.J.
    Nat. Biotechnol. 23:94-101(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  6. "The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation."
    Basel-Vanagaite L., Attia R., Yahav M., Ferland R.J., Anteki L., Walsh C.A., Olender T., Straussberg R., Magal N., Taub E., Drasinover V., Alkelai A., Bercovich D., Rechavi G., Simon A.J., Shohat M.
    J. Med. Genet. 43:203-210(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBCELLULAR LOCATION, INVOLVEMENT IN MRT3.
  7. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."
    Beausoleil S.A., Villen J., Gerber S.A., Rush J., Gygi S.P.
    Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-208, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."
    Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III
    J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-204; SER-208; SER-253 AND SER-455, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  10. "Mitotic phosphorylation of Aki1 at Ser208 by cyclin B1-Cdk1 complex."
    Nakamura A., Naito M., Arai H., Fujita N.
    Biochem. Biophys. Res. Commun. 393:872-876(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, PHOSPHORYLATION AT SER-208 BY CDK1, SUBCELLULAR LOCATION.
  11. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
    Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
    Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-208 AND SER-455, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  12. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  13. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
    Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
    Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-455, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

Entry informationi

Entry nameiC2D1A_HUMAN
AccessioniPrimary (citable) accession number: Q6P1N0
Secondary accession number(s): Q7Z435
, Q86XV0, Q8NF89, Q9H603, Q9NXI1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 13, 2006
Last sequence update: July 5, 2004
Last modified: July 9, 2014
This is version 98 of the entry and version 1 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 19
    Human chromosome 19: 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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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