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Q8NCE2

- MTMRE_HUMAN

UniProt

Q8NCE2 - MTMRE_HUMAN

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Protein
Myotubularin-related protein 14
Gene
MTMR14, C3orf29
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3.1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei330 – 3301Phosphocysteine intermediate By similarity

GO - Molecular functioni

  1. phosphatidylinositol-3-phosphatase activity Source: UniProtKB
  2. protein tyrosine phosphatase activity Source: InterPro

GO - Biological processi

  1. phosphatidylinositol biosynthetic process Source: Reactome
  2. phospholipid metabolic process Source: Reactome
  3. small molecule metabolic process Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase

Enzyme and pathway databases

BioCyciMetaCyc:HS08920-MONOMER.
BRENDAi3.1.3.64. 2681.
ReactomeiREACT_121025. Synthesis of PIPs at the plasma membrane.

Names & Taxonomyi

Protein namesi
Recommended name:
Myotubularin-related protein 14 (EC:3.1.3.-)
Alternative name(s):
HCV NS5A-transactivated protein 4 splice variant A-binding protein 1
Short name:
NS5ATP4ABP1
hJumpy
Gene namesi
Name:MTMR14
Synonyms:C3orf29
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:26190. MTMR14.

Subcellular locationi

Cytoplasm
Note: Found in reticular structures and plasma membrane ruffles. Concentrated near the nucleus.1 Publication

GO - Cellular componenti

  1. cytosol Source: Reactome
  2. perinuclear region of cytoplasm Source: UniProtKB
  3. ruffle Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Myopathy, centronuclear, 1 (CNM1) [MIM:160150]: A congenital muscle disorder characterized by progressive muscular weakness and wasting involving mainly limb girdle, trunk, and neck muscles. It may also affect distal muscles. Weakness may be present during childhood or adolescence or may not become evident until the third decade of life. Ptosis is a frequent clinical feature. The most prominent histopathologic features include high frequency of centrally located nuclei in muscle fibers not secondary to regeneration, radial arrangement of sarcoplasmic strands around the central nuclei, and predominance and hypotrophy of type 1 fibers.
Note: The gene represented in this entry may act as a disease modifier. MTMR14 mutations affecting enzymatic function have been found in sporadic cases of centronuclear myopathy, one of them carrying a disease-associated mutation in DNM2 (1 Publication). This raises the possibility of MTMR14 being a modifier of the phenotype in some cases of centronuclear myopathy (1 Publication).1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti336 – 3361R → Q in CNM1; may act as a phenotype modifier; drastically reduced enzymatic activity. 1 Publication
Corresponds to variant rs121434509 [ dbSNP | Ensembl ].
VAR_033370
Natural varianti462 – 4621Y → C in CNM1; may act as a disease modifier; mutation found in a patient also carrying mutation Lys-368 in DNM2; reduced enzymatic activity. 1 Publication
Corresponds to variant rs121434510 [ dbSNP | Ensembl ].
VAR_033371

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi330 – 3301C → S: Drastically reduced enzymatic activity. 1 Publication

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi160150. phenotype.
Orphaneti169189. Autosomal dominant centronuclear myopathy.
PharmGKBiPA162396265.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 650650Myotubularin-related protein 14
PRO_0000260214Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei194 – 1941N6-acetyllysine1 Publication
Glycosylationi226 – 2261N-linked (GlcNAc...) Reviewed prediction
Glycosylationi519 – 5191N-linked (GlcNAc...) Reviewed prediction
Modified residuei580 – 5801Phosphoserine1 Publication

Keywords - PTMi

Acetylation, Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiQ8NCE2.
PaxDbiQ8NCE2.
PRIDEiQ8NCE2.

PTM databases

PhosphoSiteiQ8NCE2.

Expressioni

Tissue specificityi

Expressed in various tissues, including heart, skeletal muscle, placenta, liver, lung, kidney and pancreas.1 Publication

Gene expression databases

ArrayExpressiQ8NCE2.
BgeeiQ8NCE2.
GenevestigatoriQ8NCE2.

Organism-specific databases

HPAiHPA054063.

Interactioni

Protein-protein interaction databases

BioGridi122168. 2 interactions.
IntActiQ8NCE2. 4 interactions.
MINTiMINT-3042111.

Structurei

3D structure databases

ProteinModelPortaliQ8NCE2.
SMRiQ8NCE2. Positions 303-386.

Family & Domainsi

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi512 – 5187Poly-Ser

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG84393.
HOVERGENiHBG062969.
InParanoidiQ8NCE2.
KOiK18086.
OMAiDTHLFDK.
OrthoDBiEOG73BVC8.
PhylomeDBiQ8NCE2.
TreeFamiTF324044.

Family and domain databases

Gene3Di3.90.190.10. 2 hits.
InterProiIPR029021. Prot-tyrosine_phosphatase-like.
IPR016130. Tyr_Pase_AS.
[Graphical view]
SUPFAMiSSF52799. SSF52799. 2 hits.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q8NCE2-1) [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

MAGARAAAAA ASAGSSASSG NQPPQELGLG ELLEEFSRTQ YRAKDGSGTG    50
GSKVERIEKR CLELFGRDYC FSVIPNTNGD ICGHYPRHIV FLEYESSEKE 100
KDTFESTVQV SKLQDLIHRS KMARCRGRFV CPVILFKGKH ICRSATLAGW 150
GELYGRSGYN YFFSGGADDA WADVEDVTEE DCALRSGDTH LFDKVRGYDI 200
KLLRYLSVKY ICDLMVENKK VKFGMNVTSS EKVDKAQRYA DFTLLSIPYP 250
GCEFFKEYKD RDYMAEGLIF NWKQDYVDAP LSIPDFLTHS LNIDWSQYQC 300
WDLVQQTQNY LKLLLSLVNS DDDSGLLVHC ISGWDRTPLF ISLLRLSLWA 350
DGLIHTSLKP TEILYLTVAY DWFLFGHMLV DRLSKGEEIF FFCFNFLKHI 400
TSEEFSALKT QRRKSLPARD GGFTLEDICM LRRKDRGSTT SLGSDFSLVM 450
ESSPGATGSF TYEAVELVPA GAPTQAAWRK SHSSSPQSVL WNRPQPSEDR 500
LPSQQGLAEA RSSSSSSSNH SDNFFRMGSS PLEVPKPRSV DHPLPGSSLS 550
TDYGSWQMVT GCGSIQERAV LHTDSSLPFS FPDELPNSCL LAALSDRETR 600
LQEVRSAFLA AYSSTVGLRA VAPSPSGAIG GLLEQFARGV GLRSISSNAL 650
Length:650
Mass (Da):72,203
Last modified:November 28, 2006 - v2
Checksum:iC1B70E5140EF0716
GO
Isoform 2 (identifier: Q8NCE2-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     539-590: Missing.

Show »
Length:598
Mass (Da):66,654
Checksum:iFC7244F7B81672CC
GO
Isoform 3 (identifier: Q8NCE2-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     479-538: Missing.
     539-590: Missing.

Show »
Length:538
Mass (Da):60,035
Checksum:i6EA5D5AC9EE34FB0
GO

Sequence cautioni

The sequence BAB15340.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti336 – 3361R → Q in CNM1; may act as a phenotype modifier; drastically reduced enzymatic activity. 1 Publication
Corresponds to variant rs121434509 [ dbSNP | Ensembl ].
VAR_033370
Natural varianti462 – 4621Y → C in CNM1; may act as a disease modifier; mutation found in a patient also carrying mutation Lys-368 in DNM2; reduced enzymatic activity. 1 Publication
Corresponds to variant rs121434510 [ dbSNP | Ensembl ].
VAR_033371

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei479 – 53860Missing in isoform 3.
VSP_021585Add
BLAST
Alternative sequencei539 – 59052Missing in isoform 2 and isoform 3.
VSP_021586Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti28 – 281G → R in CAL38187. 1 Publication
Sequence conflicti55 – 551E → G in CAL37928. 1 Publication
Sequence conflicti126 – 1261R → G in CAL38187. 1 Publication
Sequence conflicti390 – 3901F → S in BAC11211. 1 Publication
Sequence conflicti403 – 4064EEFS → ALFA in AAS50151. 1 Publication
Sequence conflicti554 – 5574GSWQ → AAGM in AAS50151. 1 Publication
Sequence conflicti646 – 6461S → N in CAL37928. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
DQ630520 mRNA. Translation: ABG02221.1.
AK026058 mRNA. Translation: BAB15340.1. Different initiation.
AK074792 mRNA. Translation: BAC11211.1.
AL713695 mRNA. Translation: CAD28494.1.
AM393309 mRNA. Translation: CAL38187.1.
AM393050 mRNA. Translation: CAL37928.1.
BC001674 mRNA. Translation: AAH01674.2.
BC025952 mRNA. Translation: AAH25952.2.
BC035690 mRNA. Translation: AAH35690.1.
BC050626 mRNA. Translation: AAH50626.1.
AY545552 mRNA. Translation: AAS50151.1.
CCDSiCCDS43043.1. [Q8NCE2-1]
CCDS43044.1. [Q8NCE2-2]
CCDS43045.1. [Q8NCE2-3]
RefSeqiNP_001070993.1. NM_001077525.2. [Q8NCE2-1]
NP_001070994.1. NM_001077526.2. [Q8NCE2-2]
NP_071930.2. NM_022485.4. [Q8NCE2-3]
UniGeneiHs.475382.

Genome annotation databases

EnsembliENST00000296003; ENSP00000296003; ENSG00000163719. [Q8NCE2-1]
ENST00000351233; ENSP00000334070; ENSG00000163719. [Q8NCE2-3]
ENST00000353332; ENSP00000323462; ENSG00000163719. [Q8NCE2-2]
GeneIDi64419.
KEGGihsa:64419.
UCSCiuc003brz.3. human. [Q8NCE2-1]
uc003bsa.3. human. [Q8NCE2-2]
uc003bsb.3. human. [Q8NCE2-3]

Polymorphism databases

DMDMi118568016.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
DQ630520 mRNA. Translation: ABG02221.1 .
AK026058 mRNA. Translation: BAB15340.1 . Different initiation.
AK074792 mRNA. Translation: BAC11211.1 .
AL713695 mRNA. Translation: CAD28494.1 .
AM393309 mRNA. Translation: CAL38187.1 .
AM393050 mRNA. Translation: CAL37928.1 .
BC001674 mRNA. Translation: AAH01674.2 .
BC025952 mRNA. Translation: AAH25952.2 .
BC035690 mRNA. Translation: AAH35690.1 .
BC050626 mRNA. Translation: AAH50626.1 .
AY545552 mRNA. Translation: AAS50151.1 .
CCDSi CCDS43043.1. [Q8NCE2-1 ]
CCDS43044.1. [Q8NCE2-2 ]
CCDS43045.1. [Q8NCE2-3 ]
RefSeqi NP_001070993.1. NM_001077525.2. [Q8NCE2-1 ]
NP_001070994.1. NM_001077526.2. [Q8NCE2-2 ]
NP_071930.2. NM_022485.4. [Q8NCE2-3 ]
UniGenei Hs.475382.

3D structure databases

ProteinModelPortali Q8NCE2.
SMRi Q8NCE2. Positions 303-386.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122168. 2 interactions.
IntActi Q8NCE2. 4 interactions.
MINTi MINT-3042111.

PTM databases

PhosphoSitei Q8NCE2.

Polymorphism databases

DMDMi 118568016.

Proteomic databases

MaxQBi Q8NCE2.
PaxDbi Q8NCE2.
PRIDEi Q8NCE2.

Protocols and materials databases

DNASUi 64419.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000296003 ; ENSP00000296003 ; ENSG00000163719 . [Q8NCE2-1 ]
ENST00000351233 ; ENSP00000334070 ; ENSG00000163719 . [Q8NCE2-3 ]
ENST00000353332 ; ENSP00000323462 ; ENSG00000163719 . [Q8NCE2-2 ]
GeneIDi 64419.
KEGGi hsa:64419.
UCSCi uc003brz.3. human. [Q8NCE2-1 ]
uc003bsa.3. human. [Q8NCE2-2 ]
uc003bsb.3. human. [Q8NCE2-3 ]

Organism-specific databases

CTDi 64419.
GeneCardsi GC03P009691.
HGNCi HGNC:26190. MTMR14.
HPAi HPA054063.
MIMi 160150. phenotype.
611089. gene.
neXtProti NX_Q8NCE2.
Orphaneti 169189. Autosomal dominant centronuclear myopathy.
PharmGKBi PA162396265.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG84393.
HOVERGENi HBG062969.
InParanoidi Q8NCE2.
KOi K18086.
OMAi DTHLFDK.
OrthoDBi EOG73BVC8.
PhylomeDBi Q8NCE2.
TreeFami TF324044.

Enzyme and pathway databases

BioCyci MetaCyc:HS08920-MONOMER.
BRENDAi 3.1.3.64. 2681.
Reactomei REACT_121025. Synthesis of PIPs at the plasma membrane.

Miscellaneous databases

GeneWikii MTMR14.
GenomeRNAii 64419.
NextBioi 66391.
PROi Q8NCE2.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q8NCE2.
Bgeei Q8NCE2.
Genevestigatori Q8NCE2.

Family and domain databases

Gene3Di 3.90.190.10. 2 hits.
InterProi IPR029021. Prot-tyrosine_phosphatase-like.
IPR016130. Tyr_Pase_AS.
[Graphical view ]
SUPFAMi SSF52799. SSF52799. 2 hits.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Screening and cloning of interaction protein 1 of HCV NS5A-transactivated protein 4 splice variant A."
    Chen L.D., Cheng J., Wang Q., Hong Y., Zhang L.F., Han L., Yuan J.
    Submitted (MAY-2006) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
  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] (ISOFORMS 1 AND 3).
    Tissue: Kidney epithelium and Teratocarcinoma.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Brain.
  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] (ISOFORMS 1; 2 AND 3).
    Tissue: Duodenal adenocarcinoma, Leukocyte, Retinal pigment epithelium and Rhabdomyosarcoma.
  5. Sales M.M., Ferrasi A.C., Pereira A.A., Pardini M.I.M.C., Sogayar M.C., Camargo A.A.
    Submitted (FEB-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 403-557 (ISOFORM 1).
    Tissue: Melanoma.
  6. "A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy."
    Tosch V., Rohde H.M., Tronchere H., Zanoteli E., Monroy N., Kretz C., Dondaine N., Payrastre B., Mandel J.-L., Laporte J.
    Hum. Mol. Genet. 15:3098-3106(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INVOLVEMENT IN CNM1 AS MODIFIER OF PHENOTYPE, VARIANTS CNM1 GLN-336 AND CYS-462, SUBCELLULAR LOCATION, TISSUE SPECIFICITY, MUTAGENESIS OF CYS-330.
  7. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-580, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.
  8. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
    Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
    Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Leukemic T-cell.
  9. "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
    Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C., Olsen J.V., Mann M.
    Science 325:834-840(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-194, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  10. "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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Cervix carcinoma.

Entry informationi

Entry nameiMTMRE_HUMAN
AccessioniPrimary (citable) accession number: Q8NCE2
Secondary accession number(s): Q0JTH5
, Q0JU83, Q6PIZ4, Q6QE21, Q86VK9, Q8IYK1, Q8TCM7, Q9H6C0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: November 28, 2006
Last sequence update: November 28, 2006
Last modified: September 3, 2014
This is version 95 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 3
    Human chromosome 3: 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

Similar proteinsi