Q8N6I4 (TM251_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Transmembrane protein 251

Gene names

Name:	TMEM251
Synonyms:	C14orf109

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	163 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Subcellular location	Membrane; Multi-pass membrane protein Potential.
Sequence similarities	Belongs to the TMEM251 family.
Sequence caution	The sequence AAH30119.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Membrane
Coding sequence diversity	Alternative splicing
Domain	Transmembrane Transmembrane helix
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Cellular_component	integral to membrane Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8N6I4-1)

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: Q8N6I4-2)

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

Isoform 3 (identifier: Q8N6I4-3)

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

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 163	163	Transmembrane protein 251		PRO_0000089916
Regions
	Transmembrane	40 – 60	21	Helical; Potential
	Transmembrane	98 – 118	21	Helical; Potential
Natural variations
	Alternative sequence	1 – 32	32	Missing in isoform 2.		VSP_036175
	Alternative sequence	1	1	M → MLAFSEM in isoform 3.		VSP_045689
Experimental info
	Sequence conflict	152 – 153	2	SN → FY in BM554490. Ref.4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 20, 2009. Version 4. Checksum: 805D11CD73B20650	FASTA	163	18,747
	10 20 30 40 50 60 MPKPPDYSEL SDSLTLAVGT GRFSGPLHRA WRMMNFRQRM GWIGVGLYLL ASAAAFYYVF 70 80 90 100 110 120 EISETYNRLA LEHIQQHPEE PLEGTTWTHS LKAQLLSLPF WVWTVIFLVP YLQMFLFLYS 130 140 150 160 CTRADPKTVG YCIIPICLAV ICNRHQAFVK ASNQISRLQL IDT
	Isoform 2 [UniParc]. Checksum: AB25FB43AAFD72CC	FASTA	131	15,222
	10 20 30 40 50 60 MMNFRQRMGW IGVGLYLLAS AAAFYYVFEI SETYNRLALE HIQQHPEEPL EGTTWTHSLK 70 80 90 100 110 120 AQLLSLPFWV WTVIFLVPYL QMFLFLYSCT RADPKTVGYC IIPICLAVIC NRHQAFVKAS 130 NQISRLQLID T
	Isoform 3 [UniParc]. Checksum: ACC354A94E11790A	FASTA	169	19,426
	10 20 30 40 50 60 MLAFSEMPKP PDYSELSDSL TLAVGTGRFS GPLHRAWRMM NFRQRMGWIG VGLYLLASAA 70 80 90 100 110 120 AFYYVFEISE TYNRLALEHI QQHPEEPLEG TTWTHSLKAQ LLSLPFWVWT VIFLVPYLQM 130 140 150 160 FLFLYSCTRA DPKTVGYCII PICLAVICNR HQAFVKASNQ ISRLQLIDT

References

[1]	"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., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract] 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]	Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases 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.

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00401760. IPI00848053.
PIR	T12454.
RefSeq	NP_001092091.1. NM_001098621.1. NP_056491.1. NM_015676.1.
UniGene	Hs.275352.
3D structure databases
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000388431.
Polymorphism databases
DMDM	221222535.
Proteomic databases
PaxDb	Q8N6I4.
PRIDE	Q8N6I4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000283534; ENSP00000283534; ENSG00000153485. ENST00000415050; ENSP00000388431; ENSG00000153485.
GeneID	26175.
KEGG	hsa:26175.
UCSC	uc001ybk.4. human.
Organism-specific databases
CTD	26175.
GeneCards	GC14P093653.
H-InvDB	HIX0011913.
HGNC	HGNC:20218. TMEM251.
HPA	HPA048559.
neXtProt	NX_Q8N6I4.
PharmGKB	PA134977710.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG47941.
HOGENOM	HOG000111822.
HOVERGEN	HBG058826.
InParanoid	Q8N6I4.
OrthoDB	EOG44J2K7.
Gene expression databases
Bgee	Q8N6I4.
CleanEx	HS_C14orf109.
Genevestigator	Q8N6I4.
GermOnline	ENSG00000153485. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	26175.
NextBio	35535280.

Entry information

Entry name

TM251_HUMAN

Accession

Primary (citable) accession number: Q8N6I4
Secondary accession number(s): J3KQ65, Q9Y4S5

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2005
Last sequence update:	January 20, 2009
Last modified:	May 1, 2013
This is version 76 of the entry and version 4 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.