TM249_HUMAN
ID TM249_HUMAN Reviewed; 235 AA.
AC Q2WGJ8;
DT 29-APR-2008, integrated into UniProtKB/Swiss-Prot.
DT 10-JAN-2006, sequence version 1.
DT 03-AUG-2022, entry version 92.
DE RecName: Full=Cation channel sperm-associated auxiliary subunit TMEM249 {ECO:0000305};
DE AltName: Full=Transmembrane protein 249 {ECO:0000312|HGNC:HGNC:44155};
GN Name=TMEM249 {ECO:0000312|HGNC:HGNC:44155};
GN Synonyms=C8orfK29 {ECO:0000312|HGNC:HGNC:44155};
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 [MRNA].
RC TISSUE=Brain;
RA Shimizu N., Asakawa S., Shimizu A., Yamazaki S., Ishikawa S.K.;
RT "Novel gene on human chromosome 8.";
RL Submitted (DEC-2004) to the EMBL/GenBank/DDBJ databases.
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16421571; DOI=10.1038/nature04406;
RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M.,
RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L.,
RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S.,
RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A.,
RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III,
RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K.,
RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P.,
RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H.,
RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B.,
RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K.,
RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L.,
RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G.,
RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W.,
RA Platzer M., Shimizu N., Lander E.S.;
RT "DNA sequence and analysis of human chromosome 8.";
RL Nature 439:331-335(2006).
CC -!- FUNCTION: Auxiliary component of the CatSper complex, a complex
CC involved in sperm cell hyperactivation.
CC {ECO:0000250|UniProtKB:A0A2R8VHF7}.
CC -!- SUBUNIT: Component of the CatSper complex or CatSpermasome composed of
CC the core pore-forming members CATSPER1, CATSPER2, CATSPER3 and CATSPER4
CC as well as auxiliary members CATSPERB, CATSPERG, CATSPERD, CATSPERE,
CC CATSPERZ, C2CD6/CATSPERT, TMEM249, TMEM262 and EFCAB9 (By similarity).
CC HSPA1 may be an additional auxiliary complex member (By similarity).
CC The core complex members CATSPER1, CATSPER2, CATSPER3 and CATSPER4 form
CC a heterotetrameric channel (By similarity). The auxiliary CATSPERB,
CC CATSPERG, CATSPERD and CATSPERE subunits form a pavilion-like structure
CC over the pore which stabilizes the complex through interactions with
CC CATSPER4, CATSPER3, CATSPER1 and CATSPER2 respectively (By similarity).
CC TMEM262/CATSPERH interacts with CATSPERB, further stabilizing the
CC complex. C2CD6/CATSPERT interacts at least with CATSPERD and is
CC required for targeting the CatSper complex in the flagellar membrane
CC (By similarity). {ECO:0000250|UniProtKB:A0A2R8VHF7,
CC ECO:0000250|UniProtKB:Q91ZR5}.
CC -!- SUBCELLULAR LOCATION: Cell projection, cilium, flagellum membrane
CC {ECO:0000250|UniProtKB:A0A2R8VHF7}; Multi-pass membrane protein
CC {ECO:0000250|UniProtKB:A0A2R8VHF7}. Note=Predominantly located in the
CC principal piece of the sperm tail. {ECO:0000250|UniProtKB:A0A2R8VHF7}.
CC -!- CAUTION: In mouse, Slco6c1 is an additional auxiliary subunit of the
CC CatSper complex. It is unclear if the related SLCO6A1 protein performs
CC the same role in non-rodent species. {ECO:0000305}.
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DR EMBL; AB196634; BAE53436.1; -; mRNA.
DR EMBL; AC233992; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AF205589; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS59117.1; -.
DR RefSeq; NP_001239331.1; NM_001252402.2.
DR RefSeq; NP_001267490.1; NM_001280561.1.
DR AlphaFoldDB; Q2WGJ8; -.
DR SMR; Q2WGJ8; -.
DR STRING; 9606.ENSP00000454468; -.
DR GlyGen; Q2WGJ8; 3 sites, 1 O-linked glycan (1 site).
DR BioMuta; TMEM249; -.
DR DMDM; 121941987; -.
DR MassIVE; Q2WGJ8; -.
DR PaxDb; Q2WGJ8; -.
DR PeptideAtlas; Q2WGJ8; -.
DR PRIDE; Q2WGJ8; -.
DR Antibodypedia; 72998; 7 antibodies from 3 providers.
DR DNASU; 340393; -.
DR Ensembl; ENST00000565365.1; ENSP00000454468.1; ENSG00000261587.2.
DR Ensembl; ENST00000645530.1; ENSP00000494307.1; ENSG00000285272.1.
DR GeneID; 340393; -.
DR KEGG; hsa:340393; -.
DR UCSC; uc011llb.4; human.
DR CTD; 340393; -.
DR GeneCards; TMEM249; -.
DR HGNC; HGNC:44155; TMEM249.
DR HPA; ENSG00000261587; Tissue enriched (testis).
DR neXtProt; NX_Q2WGJ8; -.
DR OpenTargets; ENSG00000261587; -.
DR VEuPathDB; HostDB:ENSG00000261587; -.
DR eggNOG; ENOG502S38B; Eukaryota.
DR GeneTree; ENSGT00510000050177; -.
DR HOGENOM; CLU_090681_0_0_1; -.
DR InParanoid; Q2WGJ8; -.
DR OMA; FYPFTQQ; -.
DR OrthoDB; 1380438at2759; -.
DR PhylomeDB; Q2WGJ8; -.
DR PathwayCommons; Q2WGJ8; -.
DR BioGRID-ORCS; 340393; 18 hits in 1058 CRISPR screens.
DR ChiTaRS; TMEM249; human.
DR GenomeRNAi; 340393; -.
DR Pharos; Q2WGJ8; Tdark.
DR PRO; PR:Q2WGJ8; -.
DR Proteomes; UP000005640; Chromosome 8.
DR RNAct; Q2WGJ8; protein.
DR Bgee; ENSG00000261587; Expressed in right testis and 85 other tissues.
DR ExpressionAtlas; Q2WGJ8; baseline and differential.
DR GO; GO:0036128; C:CatSper complex; ISS:UniProtKB.
DR GO; GO:0097228; C:sperm principal piece; ISS:UniProtKB.
DR InterPro; IPR027861; TMEM249.
DR PANTHER; PTHR35442; PTHR35442; 1.
DR Pfam; PF15158; DUF4579; 1.
PE 2: Evidence at transcript level;
KW Cell membrane; Cell projection; Cilium; Flagellum; Membrane;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..235
FT /note="Cation channel sperm-associated auxiliary subunit
FT TMEM249"
FT /id="PRO_0000332223"
FT TOPO_DOM 1..67
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:A0A2R8VHF7"
FT TRANSMEM 68..82
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:A0A2R8VHF7"
FT TOPO_DOM 83..93
FT /note="Extracellular"
FT /evidence="ECO:0000250|UniProtKB:A0A2R8VHF7"
FT TRANSMEM 94..105
FT /note="Helical"
FT /evidence="ECO:0000250|UniProtKB:A0A2R8VHF7"
FT TOPO_DOM 106..235
FT /note="Cytoplasmic"
FT /evidence="ECO:0000250|UniProtKB:A0A2R8VHF7"
FT REGION 215..235
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
SQ SEQUENCE 235 AA; 27046 MW; AC6BE1561C7DFAB6 CRC64;
MPKGRAGSLP TTSIGWRFQL WFLGLTCPER HLARRLKNNS FYPFVQQEPN VFVLEYYLDT
LWKGMLLFII SVVLVSFSSL REVQKQETWV FLVYGVGVGL WLVISSLPRR RLVLNHTRGV
YHFSIQGRTV CQGPLHLVYV RLALSSDAHG RCFFHLVLGG HRLEPLVLVQ LSEHYEQMEY
LGRYIARKLN INYFDYLATS YRHVVRHWPP PGAGTVMGKS PMGHKPSSSQ SSLEV
