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Protein

Transmembrane protein 251

Gene

TMEM251

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 2 out of 5-Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Transmembrane protein 251
Gene namesi
Name:TMEM251
Synonyms:C14orf109
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componentsi: Chromosome 14, Unplaced

Organism-specific databases

HGNCiHGNC:20218. TMEM251.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei40 – 6021HelicalSequence AnalysisAdd
BLAST
Transmembranei98 – 11821HelicalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134977710.

Polymorphism and mutation databases

DMDMi221222535.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 163163Transmembrane protein 251PRO_0000089916Add
BLAST

Proteomic databases

MaxQBiQ8N6I4.
PaxDbiQ8N6I4.
PRIDEiQ8N6I4.

Expressioni

Gene expression databases

BgeeiQ8N6I4.
CleanExiHS_C14orf109.
GenevestigatoriQ8N6I4.

Organism-specific databases

HPAiHPA048559.

Interactioni

Protein-protein interaction databases

STRINGi9606.ENSP00000388431.

Family & Domainsi

Sequence similaritiesi

Belongs to the TMEM251 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG47941.
GeneTreeiENSGT00390000007473.
HOGENOMiHOG000111822.
HOVERGENiHBG058826.
InParanoidiQ8N6I4.
OMAiWRMMNFR.
OrthoDBiEOG75MVZ2.
PhylomeDBiQ8N6I4.
TreeFamiTF332722.

Family and domain databases

InterProiIPR028024. TMEM251.
[Graphical view]
PfamiPF15190. DUF4583. 1 hit.
[Graphical view]
ProDomiPD641273. PD641273. 1 hit.
[Graphical view] [Entries sharing at least one domain]

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8N6I4-1) [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
MPKPPDYSEL SDSLTLAVGT GRFSGPLHRA WRMMNFRQRM GWIGVGLYLL
60 70 80 90 100
ASAAAFYYVF EISETYNRLA LEHIQQHPEE PLEGTTWTHS LKAQLLSLPF
110 120 130 140 150
WVWTVIFLVP YLQMFLFLYS CTRADPKTVG YCIIPICLAV ICNRHQAFVK
160
ASNQISRLQL IDT
Length:163
Mass (Da):18,747
Last modified:January 20, 2009 - v4
Checksum:i805D11CD73B20650
GO
Isoform 2 (identifier: Q8N6I4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-32: Missing.

Show »
Length:131
Mass (Da):15,222
Checksum:iAB25FB43AAFD72CC
GO
Isoform 3 (identifier: Q8N6I4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MLAFSEM

Note: No experimental confirmation available.

Show »
Length:169
Mass (Da):19,426
Checksum:iACC354A94E11790A
GO

Sequence cautioni

The sequence AAH30119.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti152 – 1532SN → FY in BM554490 (PubMed:15489334).Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3232Missing in isoform 2. 2 PublicationsVSP_036175Add
BLAST
Alternative sequencei1 – 11M → MLAFSEM in isoform 3. 1 PublicationVSP_045689

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL080118 mRNA. Translation: CAB45717.2.
AL110118 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81518.1.
BC030119 mRNA. Translation: AAH30119.2. Different initiation.
BM554490 mRNA. No translation available.
CX785861 mRNA. No translation available.
CCDSiCCDS41980.1. [Q8N6I4-2]
CCDS45158.1. [Q8N6I4-3]
PIRiT12454.
RefSeqiNP_001092091.1. NM_001098621.1. [Q8N6I4-3]
NP_056491.1. NM_015676.1. [Q8N6I4-2]
UniGeneiHs.275352.
Hs.648806.

Genome annotation databases

EnsembliENST00000283534; ENSP00000283534; ENSG00000153485. [Q8N6I4-2]
ENST00000415050; ENSP00000388431; ENSG00000153485. [Q8N6I4-3]
ENST00000622205; ENSP00000478917; ENSG00000275947. [Q8N6I4-3]
GeneIDi26175.
KEGGihsa:26175.
UCSCiuc001ybk.4. human. [Q8N6I4-1]
uc010auo.3. human.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL080118 mRNA. Translation: CAB45717.2.
AL110118 Genomic DNA. No translation available.
CH471061 Genomic DNA. Translation: EAW81518.1.
BC030119 mRNA. Translation: AAH30119.2. Different initiation.
BM554490 mRNA. No translation available.
CX785861 mRNA. No translation available.
CCDSiCCDS41980.1. [Q8N6I4-2]
CCDS45158.1. [Q8N6I4-3]
PIRiT12454.
RefSeqiNP_001092091.1. NM_001098621.1. [Q8N6I4-3]
NP_056491.1. NM_015676.1. [Q8N6I4-2]
UniGeneiHs.275352.
Hs.648806.

3D structure databases

ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000388431.

Polymorphism and mutation databases

DMDMi221222535.

Proteomic databases

MaxQBiQ8N6I4.
PaxDbiQ8N6I4.
PRIDEiQ8N6I4.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000283534; ENSP00000283534; ENSG00000153485. [Q8N6I4-2]
ENST00000415050; ENSP00000388431; ENSG00000153485. [Q8N6I4-3]
ENST00000622205; ENSP00000478917; ENSG00000275947. [Q8N6I4-3]
GeneIDi26175.
KEGGihsa:26175.
UCSCiuc001ybk.4. human. [Q8N6I4-1]
uc010auo.3. human.

Organism-specific databases

CTDi26175.
GeneCardsiGC14P093653.
H-InvDBHIX0011913.
HGNCiHGNC:20218. TMEM251.
HPAiHPA048559.
neXtProtiNX_Q8N6I4.
PharmGKBiPA134977710.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG47941.
GeneTreeiENSGT00390000007473.
HOGENOMiHOG000111822.
HOVERGENiHBG058826.
InParanoidiQ8N6I4.
OMAiWRMMNFR.
OrthoDBiEOG75MVZ2.
PhylomeDBiQ8N6I4.
TreeFamiTF332722.

Miscellaneous databases

GenomeRNAii26175.
NextBioi35535280.
PROiQ8N6I4.

Gene expression databases

BgeeiQ8N6I4.
CleanExiHS_C14orf109.
GenevestigatoriQ8N6I4.

Family and domain databases

InterProiIPR028024. TMEM251.
[Graphical view]
PfamiPF15190. DUF4583. 1 hit.
[Graphical view]
ProDomiPD641273. PD641273. 1 hit.
[Graphical view] [Entries sharing at least one domain]
ProtoNetiSearch...

Publicationsi

  1. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Embryonic brain.
  2. "The DNA sequence and analysis of human chromosome 14."
    Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C., Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A., Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H., Du H.
    , Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T., Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B., Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D., Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R., Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S., Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C., Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S., Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C., Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P., Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M., Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V., Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J., Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F., Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F., Waterston R., Hood L., Weissenbach J.
    Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  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 2 AND 3), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-149 (ISOFORM 1).
    Tissue: Brain and Melanoma.

Entry informationi

Entry nameiTM251_HUMAN
AccessioniPrimary (citable) accession number: Q8N6I4
Secondary accession number(s): J3KQ65, Q9Y4S5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: January 20, 2009
Last modified: January 7, 2015
This is version 92 of the entry and version 4 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 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  2. SIMILARITY comments
    Index of protein domains and families
  3. Uncharacterized protein families (UPF)
    List of uncharacterized protein family (UPF) entries

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.