TM251_HUMAN
ID TM251_HUMAN Reviewed; 163 AA.
AC Q8N6I4; J3KQ65; Q9Y4S5;
DT 19-JUL-2005, integrated into UniProtKB/Swiss-Prot.
DT 20-JAN-2009, sequence version 4.
DT 03-AUG-2022, entry version 133.
DE RecName: Full=Transmembrane protein 251;
GN Name=TMEM251; Synonyms=C14orf109;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC TISSUE=Embryonic brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=12508121; DOI=10.1038/nature01348;
RA Heilig R., Eckenberg R., Petit J.-L., Fonknechten N., Da Silva C.,
RA Cattolico L., Levy M., Barbe V., De Berardinis V., Ureta-Vidal A.,
RA Pelletier E., Vico V., Anthouard V., Rowen L., Madan A., Qin S., Sun H.,
RA Du H., Pepin K., Artiguenave F., Robert C., Cruaud C., Bruels T.,
RA Jaillon O., Friedlander L., Samson G., Brottier P., Cure S., Segurens B.,
RA Aniere F., Samain S., Crespeau H., Abbasi N., Aiach N., Boscus D.,
RA Dickhoff R., Dors M., Dubois I., Friedman C., Gouyvenoux M., James R.,
RA Madan A., Mairey-Estrada B., Mangenot S., Martins N., Menard M., Oztas S.,
RA Ratcliffe A., Shaffer T., Trask B., Vacherie B., Bellemere C., Belser C.,
RA Besnard-Gonnet M., Bartol-Mavel D., Boutard M., Briez-Silla S.,
RA Combette S., Dufosse-Laurent V., Ferron C., Lechaplais C., Louesse C.,
RA Muselet D., Magdelenat G., Pateau E., Petit E., Sirvain-Trukniewicz P.,
RA Trybou A., Vega-Czarny N., Bataille E., Bluet E., Bordelais I., Dubois M.,
RA Dumont C., Guerin T., Haffray S., Hammadi R., Muanga J., Pellouin V.,
RA Robert D., Wunderle E., Gauguet G., Roy A., Sainte-Marthe L., Verdier J.,
RA Verdier-Discala C., Hillier L.W., Fulton L., McPherson J., Matsuda F.,
RA Wilson R., Scarpelli C., Gyapay G., Wincker P., Saurin W., Quetier F.,
RA Waterston R., Hood L., Weissenbach J.;
RT "The DNA sequence and analysis of human chromosome 14.";
RL Nature 421:601-607(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 1-149 (ISOFORM 1).
RC TISSUE=Brain, and Melanoma;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP SUBCELLULAR LOCATION, INVOLVEMENT IN DMAN, AND VARIANT DMAN TRP-39.
RX PubMed=33252156; DOI=10.1002/humu.24139;
RA Ain N.U., Muhammad N., Dianatpour M., Baroncelli M., Iqbal M., Fard M.A.F.,
RA Bukhari I., Ahmed S., Hajipour M., Tabatabaie Z., Foroutan H., Nilsson O.,
RA Faghihi M.A., Makitie O., Naz S.;
RT "Biallelic TMEM251 variants in patients with severe skeletal dysplasia and
RT extreme short stature.";
RL Hum. Mutat. 42:89-101(2021).
CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC protein {ECO:0000305}. Golgi apparatus {ECO:0000269|PubMed:33252156}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q8N6I4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8N6I4-2; Sequence=VSP_036175;
CC Name=3;
CC IsoId=Q8N6I4-3; Sequence=VSP_045689;
CC -!- DISEASE: Dysostosis multiplex, Ain-Naz type (DMAN) [MIM:619345]: An
CC autosomal recessive, severe skeletal disease characterized by features
CC of dysostosis multiplex, severe short stature, coarse facies with broad
CC nose and prominent lips, protruding abdomens, and progressive skeletal
CC changes causing gradual mobility loss. Death in childhood or early
CC adulthood may occur. {ECO:0000269|PubMed:33252156}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TMEM251 family. {ECO:0000305}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH30119.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
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DR EMBL; AL080118; CAB45717.2; -; mRNA.
DR EMBL; AL110118; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471061; EAW81518.1; -; Genomic_DNA.
DR EMBL; BC030119; AAH30119.2; ALT_INIT; mRNA.
DR EMBL; BM554490; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; CX785861; -; NOT_ANNOTATED_CDS; mRNA.
DR CCDS; CCDS41980.1; -. [Q8N6I4-2]
DR CCDS; CCDS45158.1; -. [Q8N6I4-1]
DR PIR; T12454; T12454.
DR RefSeq; NP_001092091.1; NM_001098621.1. [Q8N6I4-1]
DR RefSeq; NP_056491.1; NM_015676.1. [Q8N6I4-2]
DR AlphaFoldDB; Q8N6I4; -.
DR BioGRID; 117597; 2.
DR STRING; 9606.ENSP00000388431; -.
DR SwissPalm; Q8N6I4; -.
DR BioMuta; TMEM251; -.
DR DMDM; 221222535; -.
DR MassIVE; Q8N6I4; -.
DR MaxQB; Q8N6I4; -.
DR PaxDb; Q8N6I4; -.
DR PeptideAtlas; Q8N6I4; -.
DR PRIDE; Q8N6I4; -.
DR ProteomicsDB; 72180; -. [Q8N6I4-1]
DR ProteomicsDB; 72181; -. [Q8N6I4-2]
DR Antibodypedia; 64066; 5 antibodies from 5 providers.
DR DNASU; 26175; -.
DR Ensembl; ENST00000283534.4; ENSP00000283534.4; ENSG00000153485.6. [Q8N6I4-2]
DR Ensembl; ENST00000415050.3; ENSP00000388431.3; ENSG00000153485.6. [Q8N6I4-1]
DR Ensembl; ENST00000622205.2; ENSP00000478917.1; ENSG00000275947.2. [Q8N6I4-3]
DR Ensembl; ENST00000626767.1; ENSP00000486678.1; ENSG00000275947.2. [Q8N6I4-2]
DR GeneID; 26175; -.
DR KEGG; hsa:26175; -.
DR MANE-Select; ENST00000415050.3; ENSP00000388431.3; NM_001098621.4; NP_001092091.2.
DR UCSC; uc001ybk.4; human. [Q8N6I4-1]
DR CTD; 26175; -.
DR GeneCards; TMEM251; -.
DR HGNC; HGNC:20218; TMEM251.
DR HPA; ENSG00000153485; Low tissue specificity.
DR MIM; 619332; gene.
DR MIM; 619345; phenotype.
DR neXtProt; NX_Q8N6I4; -.
DR OpenTargets; ENSG00000153485; -.
DR PharmGKB; PA134977710; -.
DR VEuPathDB; HostDB:ENSG00000153485; -.
DR eggNOG; ENOG502RY2J; Eukaryota.
DR GeneTree; ENSGT00390000007473; -.
DR HOGENOM; CLU_133007_0_0_1; -.
DR InParanoid; Q8N6I4; -.
DR OMA; AYYIFEV; -.
DR OrthoDB; 1528152at2759; -.
DR PhylomeDB; Q8N6I4; -.
DR TreeFam; TF332722; -.
DR PathwayCommons; Q8N6I4; -.
DR BioGRID-ORCS; 26175; 20 hits in 1083 CRISPR screens.
DR GenomeRNAi; 26175; -.
DR Pharos; Q8N6I4; Tdark.
DR PRO; PR:Q8N6I4; -.
DR Proteomes; UP000005640; Chromosome 14.
DR RNAct; Q8N6I4; protein.
DR Bgee; ENSG00000153485; Expressed in islet of Langerhans and 99 other tissues.
DR Genevisible; Q8N6I4; HS.
DR GO; GO:0005794; C:Golgi apparatus; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR InterPro; IPR028024; TMEM251.
DR PANTHER; PTHR31925; PTHR31925; 1.
DR Pfam; PF15190; TMEM251; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Disease variant; Dwarfism; Golgi apparatus; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..163
FT /note="Transmembrane protein 251"
FT /id="PRO_0000089916"
FT TRANSMEM 40..60
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TRANSMEM 98..118
FT /note="Helical"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..32
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334,
FT ECO:0000303|PubMed:17974005"
FT /id="VSP_036175"
FT VAR_SEQ 1
FT /note="M -> MLAFSEM (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045689"
FT VARIANT 39
FT /note="R -> W (in DMAN)"
FT /evidence="ECO:0000269|PubMed:33252156"
FT /id="VAR_085583"
FT CONFLICT 152..153
FT /note="SN -> FY (in Ref. 4; BM554490)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 163 AA; 18747 MW; 805D11CD73B20650 CRC64;
MPKPPDYSEL SDSLTLAVGT GRFSGPLHRA WRMMNFRQRM GWIGVGLYLL ASAAAFYYVF
EISETYNRLA LEHIQQHPEE PLEGTTWTHS LKAQLLSLPF WVWTVIFLVP YLQMFLFLYS
CTRADPKTVG YCIIPICLAV ICNRHQAFVK ASNQISRLQL IDT
