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Q8N6I4

- TM251_HUMAN

UniProt

Q8N6I4 - TM251_HUMAN

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Protein
Transmembrane protein 251
Gene
TMEM251, C14orf109
Organism
Homo sapiens (Human)
Status
Reviewed - 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: Chromosome 14

Organism-specific databases

HGNCiHGNC:20218. TMEM251.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transmembranei40 – 6021Helical; Reviewed prediction
Add
BLAST
Transmembranei98 – 11821Helical; Reviewed prediction
Add
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.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 163163Transmembrane protein 251
PRO_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.

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG47941.
HOGENOMiHOG000111822.
HOVERGENiHBG058826.
InParanoidiQ8N6I4.
OMAiRAWRMMN.
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. Align

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

MPKPPDYSEL SDSLTLAVGT GRFSGPLHRA WRMMNFRQRM GWIGVGLYLL    50
ASAAAFYYVF EISETYNRLA LEHIQQHPEE PLEGTTWTHS LKAQLLSLPF 100
WVWTVIFLVP YLQMFLFLYS CTRADPKTVG YCIIPICLAV ICNRHQAFVK 150
ASNQISRLQL IDT 163
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.

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 3232Missing in isoform 2.
VSP_036175Add
BLAST
Alternative sequencei1 – 11M → MLAFSEM in isoform 3.
VSP_045689

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti152 – 1532SN → FY in BM554490. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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]
GeneIDi26175.
KEGGihsa:26175.
UCSCiuc001ybk.4. human. [Q8N6I4-1]
uc010auo.3. human.

Polymorphism databases

DMDMi221222535.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
CCDSi CCDS41980.1. [Q8N6I4-2 ]
CCDS45158.1. [Q8N6I4-3 ]
PIRi T12454.
RefSeqi NP_001092091.1. NM_001098621.1. [Q8N6I4-3 ]
NP_056491.1. NM_015676.1. [Q8N6I4-2 ]
UniGenei Hs.275352.
Hs.648806.

3D structure databases

ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000388431.

Polymorphism databases

DMDMi 221222535.

Proteomic databases

MaxQBi Q8N6I4.
PaxDbi Q8N6I4.
PRIDEi Q8N6I4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000283534 ; ENSP00000283534 ; ENSG00000153485 . [Q8N6I4-2 ]
ENST00000415050 ; ENSP00000388431 ; ENSG00000153485 . [Q8N6I4-3 ]
GeneIDi 26175.
KEGGi hsa:26175.
UCSCi uc001ybk.4. human. [Q8N6I4-1 ]
uc010auo.3. human.

Organism-specific databases

CTDi 26175.
GeneCardsi GC14P093653.
H-InvDB HIX0011913.
HGNCi HGNC:20218. TMEM251.
HPAi HPA048559.
neXtProti NX_Q8N6I4.
PharmGKBi PA134977710.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG47941.
HOGENOMi HOG000111822.
HOVERGENi HBG058826.
InParanoidi Q8N6I4.
OMAi RAWRMMN.
OrthoDBi EOG75MVZ2.
PhylomeDBi Q8N6I4.
TreeFami TF332722.

Miscellaneous databases

GenomeRNAii 26175.
NextBioi 35535280.
PROi Q8N6I4.

Gene expression databases

Bgeei Q8N6I4.
CleanExi HS_C14orf109.
Genevestigatori Q8N6I4.

Family and domain databases

InterProi IPR028024. TMEM251.
[Graphical view ]
Pfami PF15190. DUF4583. 1 hit.
[Graphical view ]
ProDomi PD641273. PD641273. 1 hit.
[Graphical view ] [Entries sharing at least one domain ]
ProtoNeti Search...

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: September 3, 2014
This is version 88 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