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Reviewed, UniProtKB/Swiss-Prot O94972 (TRI37_HUMAN)

Last modified June 16, 2009. Version 77. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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 · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Tripartite motif-containing protein 37
Alternative name(s):
    Mulibrey nanism protein
Gene names
Name: TRIM37
Synonyms: KIAA0898, MUL, POB1
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length964 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Subcellular location

Cytoplasm. Peroxisome. Note: Found in vesicles of the peroxisome. Ref.6

Tissue specificity

Ubiquitous. Ref.5

Involvement in disease

Defects in TRIM37 are the cause of mulibrey nanism (MUL) [MIM:253250]; also called muscle-liver-brain-eye nanism. Mulibrey nanism is an autosomal recessive disorder that involves several tissues of mesodermal origin, implying a defect in a highly pleiotropic gene. Characteristic features include severe growth failure of prenatal onset and constrictive pericardium with consequent hepatomegaly. In addition, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, typical dysmorphic features and hypoplasia of various endocrine glands causing hormonal deficiency are common. Ref.5 Ref.7

Sequence similarities

Belongs to the TRIM/RBCC family.

Contains 1 B box-type zinc finger.

Contains 1 MATH domain.

Contains 1 RING-type zinc finger.

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Ontologies

Keywords
   Cellular componentCytoplasm
Peroxisome
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
Zinc-finger
   LigandMetal-binding
Zinc
   PTMPhosphoprotein
Gene Ontology (GO)
   Cellular componentperoxisome

Inferred from electronic annotation. Source: UniProtKB-SubCell

   Molecular functionprotein binding

Inferred from physical interaction. Source: IntAct

zinc ion binding

Inferred from electronic annotation. Source: UniProtKB-KW

Complete GO annotation...

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Binary interactions

With

Entry

#Exp.

IntAct

Notes

PRC1O436631EBI-741602,EBI-741137

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Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O94972-1)

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: O94972-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-122: Missing.
     899-937: Missing.
Note: No experimental confirmation available.

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 964964Tripartite motif-containing protein 37
PRO_0000056254

Regions

Domain276 – 403128MATH
Zinc finger15 – 5541RING-type; degenerate
Zinc finger90 – 13243B box-type
Coiled coil132 – 234103 Potential
Coiled coil419 – 45032 Potential
Coiled coil673 – 70028 Potential
Compositional bias534 – 5407Poly-Ser
Compositional bias578 – 5814Poly-Ala

Amino acid modifications

Modified residue7711Phosphoserine Ref.8
Modified residue7731Phosphoserine Ref.8

Natural variations

Alternative sequence1 – 122122Missing in isoform 2.
VSP_011919
Alternative sequence899 – 93739Missing in isoform 2.
VSP_011920
Natural variant8381V → I: dbSNP rs7222388.
VAR_052142

Experimental info

Sequence conflict1081T → A in AAH36012. Ref.4
Sequence conflict6241D → A in AAL36460. Ref.1

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Sequences

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

Last modified November 23, 2004. Version 2.
Checksum: C0F08D5A5DC3B5AC

FASTA964107,906
        10         20         30         40         50         60 
MDEQSVESIA EVFRCFICME KLRDARLCPH CSKLCCFSCI RRWLTEQRAQ CPHCRAPLQL 

        70         80         90        100        110        120 
RELVNCRWAE EVTQQLDTLQ LCSLTKHEEN EKDKCENHHE KLSVFCWTCK KCICHQCALW 

       130        140        150        160        170        180 
GGMHGGHTFK PLAEIYEQHV TKVNEEVAKL RRRLMELISL VQEVERNVEA VRNAKDERVR 

       190        200        210        220        230        240 
EIRNAVEMMI ARLDTQLKNK LITLMGQKTS LTQETELLES LLQEVEHQLR SCSKSELISK 

       250        260        270        280        290        300 
SSEILMMFQQ VHRKPMASFV TTPVPPDFTS ELVPSYDSAT FVLENFSTLR QRADPVYSPP 

       310        320        330        340        350        360 
LQVSGLCWRL KVYPDGNGVV RGYYLSVFLE LSAGLPETSK YEYRVEMVHQ SCNDPTKNII 

       370        380        390        400        410        420 
REFASDFEVG ECWGYNRFFR LDLLANEGYL NPQNDTVILR FQVRSPTFFQ KSRDQHWYIT 

       430        440        450        460        470        480 
QLEAAQTSYI QQINNLKERL TIELSRTQKS RDLSPPDNHL SPQNDDALET RAKKSACSDM 

       490        500        510        520        530        540 
LLEGGPTTAS VREAKEDEED EEKIQNEDYH HELSDGDLDL DLVYEDEVNQ LDGSSSSASS 

       550        560        570        580        590        600 
TATSNTEEND IDEETMSGEN DVEYNNMELE EGELMEDAAA AGPAGSSHGY VGSSSRISRR 

       610        620        630        640        650        660 
THLCSAATSS LLDIDPLILI HLLDLKDRSS IENLWGLQPR PPASLLQPTA SYSRKDKDQR 

       670        680        690        700        710        720 
KQQAMWRVPS DLKMLKRLKT QMAEVRCMKT DVKNTLSEIK SSSAASGDMQ TSLFSADQAA 

       730        740        750        760        770        780 
LAACGTENSG RLQDLGMELL AKSSVANCYI RNSTNKKSNS PKPARSSVAG SLSLRRAVDP 

       790        800        810        820        830        840 
GENSRSKGDC QTLSEGSPGS SQSGSRHSSP RALIHGSIGD ILPKTEDRQC KALDSDAVVV 

       850        860        870        880        890        900 
AVFSGLPAVE KRRKMVTLGA NAKGGHLEGL QMTDLENNSE TGELQPVLPE GASAAPEEGM 

       910        920        930        940        950        960 
SSDSDIECDT ENEEQEEHTS VGGFHDSFMV MTQPPDEDTH SSFPDGEQIG PEDLSFNTDE 


NSGR

« Hide

Isoform 2.

Checksum: 43486E1064478477
Show »

FASTA80389,186

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References

« Hide 'large scale' references
[1]"Gene POB1 is amplified and overexpressed in human breast cancer."
Wu G., Couch F.J.
Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Ishikawa K., Suyama M., Kikuno R., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
DNA Res. 5:355-364(1998) [PubMed: 10048485] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Blocker H., Heubner D., Hoerlein A., Michel G., Wedler H., Kohrer K., Ottenwalder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Testis.
[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: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Testis.
[5]"Gene encoding a new RING-B-box-coiled-coil protein is mutated in mulibrey nanism."
Avela K., Lipsanen-Nyman M., Idanheimo N., Seemanova E., Rosengren S., Makela T.P., Perheentupa J., Chapelle A.D., Lehesjoki A.E.
Nat. Genet. 25:298-301(2000) [PubMed: 10888877] [Abstract]
Cited for: DISEASE, TISSUE SPECIFICITY.
[6]"The TRIM37 gene encodes a peroxisomal RING-B-box-coiled-coil protein: classification of mulibrey nanism as a new peroxisomal disorder."
Kallijarvi J., Avela K., Lipsanen-Nyman M., Ulmanen I., Lehesjoki A.E.
Am. J. Hum. Genet. 70:1215-1228(2002) [PubMed: 11938494] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[7]"A novel splice site mutation in the TRIM37 gene causes mulibrey nanism in a Turkish family with phenotypic heterogeneity."
Jagiello P., Hammans C., Wieczorek S., Arning L., Stefanski A., Strehl H., Epplen J.T., Gencik M.
Hum. Mutat. 21:630-635(2003) [PubMed: 12754710] [Abstract]
Cited for: DISEASE.
[8]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed: 17081983] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-771 AND SER-773, MASS SPECTROMETRY.
Tissue: Epithelium.
+Additional computationally mapped references.

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Cross-references

Sequence databases

AF213365 mRNA. Translation: AAL36460.1.
AB020705 mRNA. Translation: BAA74921.1. Different initiation.
BX537955 mRNA. Translation: CAD97922.1.
BC036012 mRNA. Translation: AAH36012.1.
IPIIPI00016619.
IPI00479325.
RefSeqNP_001005207.1.
NP_056109.1.
UniGeneHs.579079
Hs.605697

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActO94972. 22 interactions.

PTM databases

PhosphoSiteO94972.

Proteomic databases

PRIDEO94972.

Genome annotation databases

EnsemblENSG00000108395. Homo sapiens. [Contig view]
GeneID4591.
KEGGhsa:4591.

Organism-specific databases

GeneCardsGC17M054414.
H-InvDBHIX0014039.
HGNCHGNC:7523. TRIM37.
MIM253250. phenotype.
605073. gene.
Orphanet2576. MULIBREY nanism.
PharmGKBPA35497.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

HOGENOMO94972.
HOVERGENO94972.
OMAO94972. EILMMFQ.

Gene expression databases

ArrayExpressO94972.
BgeeO94972.
CleanExHS_TRIM37.
GermOnlineENSG00000108395. Homo sapiens.

Family and domain databases

InterProIPR003649. Bbox_C.
IPR002083. MATH.
IPR000315. Znf_B-box.
IPR001841. Znf_RING.
IPR017907. Znf_RING_CS.
[Graphical view]
PfamPF00917. MATH. 1 hit.
PF00643. zf-B_box. 1 hit.
[Graphical view]
SMARTSM00502. BBC. 1 hit.
SM00336. BBOX. 1 hit.
SM00061. MATH. 1 hit.
SM00184. RING. 1 hit.
[Graphical view]
PROSITEPS50144. MATH. 1 hit.
PS50119. ZF_BBOX. 1 hit.
PS00518. ZF_RING_1. False negative.
PS50089. ZF_RING_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio17650.
SOURCESearch...

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Entry information

Entry nameTRI37_HUMAN
AccessionPrimary (citable) accession number: O94972
Secondary accession number(s): Q7Z3E6, Q8IYF7, Q8WYF7
Entry history
Integrated into UniProtKB/Swiss-Prot: November 23, 2004
Last sequence update: November 23, 2004
Last modified: June 16, 2009
This is version 77 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 17

Human chromosome 17: 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

SIMILARITY comments

Index of protein domains and families

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