K1210_HUMAN
ID K1210_HUMAN Reviewed; 1709 AA.
AC Q9ULL0; B7ZCI8; Q5JPN4;
DT 27-SEP-2005, integrated into UniProtKB/Swiss-Prot.
DT 03-NOV-2009, sequence version 3.
DT 03-AUG-2022, entry version 117.
DE RecName: Full=Acrosomal protein KIAA1210 {ECO:0000305};
GN Name=KIAA1210 {ECO:0000303|PubMed:10574462, ECO:0000312|HGNC:HGNC:29218};
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 GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 595-1709.
RC TISSUE=Brain;
RX PubMed=10574462; DOI=10.1093/dnares/6.5.337;
RA Nagase T., Ishikawa K., Kikuno R., Hirosawa M., Nomura N., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XV. The
RT complete sequences of 100 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 6:337-345(1999).
RN [3]
RP VARIANT PHE-208.
RX PubMed=23092983; DOI=10.1038/tp.2012.102;
RA Nava C., Lamari F., Heron D., Mignot C., Rastetter A., Keren B., Cohen D.,
RA Faudet A., Bouteiller D., Gilleron M., Jacquette A., Whalen S., Afenjar A.,
RA Perisse D., Laurent C., Dupuits C., Gautier C., Gerard M., Huguet G.,
RA Caillet S., Leheup B., Leboyer M., Gillberg C., Delorme R., Bourgeron T.,
RA Brice A., Depienne C.;
RT "Analysis of the chromosome X exome in patients with autism spectrum
RT disorders identified novel candidate genes, including TMLHE.";
RL Transl. Psychiatry 2:E179-E179(2012).
RN [4]
RP VARIANT GLU-1568.
RX PubMed=26506222; DOI=10.1002/ana.24550;
RA Park H.J., Hong Y.B., Choi Y.C., Lee J., Kim E.J., Lee J.S., Mo W.M.,
RA Ki S.M., Kim H.I., Kim H.J., Hyun Y.S., Hong H.D., Nam K., Jung S.C.,
RA Kim S.B., Kim S.H., Kim D.H., Oh K.W., Kim S.H., Yoo J.H., Lee J.E.,
RA Chung K.W., Choi B.O.;
RT "ADSSL1 mutation relevant to autosomal recessive adolescent onset distal
RT myopathy.";
RL Ann. Neurol. 79:231-243(2016).
CC -!- SUBUNIT: Interacts with TOP2B. {ECO:0000250|UniProtKB:E9Q0C6}.
CC -!- SUBCELLULAR LOCATION: Cytoplasmic vesicle, secretory vesicle, acrosome
CC {ECO:0000250|UniProtKB:E9Q0C6}. Note=Localizes to the sex body in
CC spermatocyte, acrosome, and near the ectoplasmic specialization.
CC {ECO:0000250|UniProtKB:E9Q0C6}.
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DR EMBL; AL441887; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL590376; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL772284; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AB033036; BAA86524.1; -; mRNA.
DR CCDS; CCDS48156.1; -.
DR RefSeq; NP_065772.1; NM_020721.1.
DR AlphaFoldDB; Q9ULL0; -.
DR BioGRID; 121551; 1.
DR IntAct; Q9ULL0; 3.
DR STRING; 9606.ENSP00000384670; -.
DR GlyGen; Q9ULL0; 3 sites, 1 O-linked glycan (3 sites).
DR iPTMnet; Q9ULL0; -.
DR PhosphoSitePlus; Q9ULL0; -.
DR BioMuta; KIAA1210; -.
DR DMDM; 262527575; -.
DR MassIVE; Q9ULL0; -.
DR PaxDb; Q9ULL0; -.
DR PeptideAtlas; Q9ULL0; -.
DR PRIDE; Q9ULL0; -.
DR ProteomicsDB; 85067; -.
DR Antibodypedia; 63509; 12 antibodies from 7 providers.
DR DNASU; 57481; -.
DR Ensembl; ENST00000402510.2; ENSP00000384670.2; ENSG00000250423.3.
DR GeneID; 57481; -.
DR KEGG; hsa:57481; -.
DR UCSC; uc004era.4; human.
DR CTD; 57481; -.
DR DisGeNET; 57481; -.
DR GeneCards; KIAA1210; -.
DR HGNC; HGNC:29218; KIAA1210.
DR HPA; ENSG00000250423; Group enriched (epididymis, seminal vesicle, testis).
DR MIM; 300995; gene.
DR neXtProt; NX_Q9ULL0; -.
DR OpenTargets; ENSG00000250423; -.
DR PharmGKB; PA164721837; -.
DR VEuPathDB; HostDB:ENSG00000250423; -.
DR eggNOG; ENOG502QXCA; Eukaryota.
DR GeneTree; ENSGT00940000163031; -.
DR HOGENOM; CLU_002901_0_0_1; -.
DR InParanoid; Q9ULL0; -.
DR OMA; QPLMNPK; -.
DR OrthoDB; 145006at2759; -.
DR PhylomeDB; Q9ULL0; -.
DR TreeFam; TF328810; -.
DR PathwayCommons; Q9ULL0; -.
DR BioGRID-ORCS; 57481; 6 hits in 691 CRISPR screens.
DR ChiTaRS; KIAA1210; human.
DR GenomeRNAi; 57481; -.
DR Pharos; Q9ULL0; Tdark.
DR PRO; PR:Q9ULL0; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q9ULL0; protein.
DR Bgee; ENSG00000250423; Expressed in cauda epididymis and 36 other tissues.
DR Genevisible; Q9ULL0; HS.
DR GO; GO:0001669; C:acrosomal vesicle; ISS:UniProtKB.
DR InterPro; IPR026713; CRACD-like.
DR InterPro; IPR028030; DUF4592.
DR PANTHER; PTHR47743; PTHR47743; 1.
DR Pfam; PF15262; DUF4592; 1.
PE 2: Evidence at transcript level;
KW Cytoplasmic vesicle; Reference proteome.
FT CHAIN 1..1709
FT /note="Acrosomal protein KIAA1210"
FT /id="PRO_0000050790"
FT REGION 207..226
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 239..275
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 451..663
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 763..973
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1211..1382
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1408..1516
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1539..1571
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1589..1653
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 456..490
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 591..611
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 804..842
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 885..941
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 958..972
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1233..1249
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1310..1382
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1434..1448
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1490..1516
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1590..1616
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1624..1639
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 103
FT /note="G -> V (in dbSNP:rs5910522)"
FT /id="VAR_061243"
FT VARIANT 208
FT /note="V -> F (in dbSNP:rs201254782)"
FT /evidence="ECO:0000269|PubMed:23092983"
FT /id="VAR_076260"
FT VARIANT 419
FT /note="L -> F (in dbSNP:rs35613130)"
FT /id="VAR_061244"
FT VARIANT 844
FT /note="P -> A (in dbSNP:rs7063611)"
FT /id="VAR_061245"
FT VARIANT 852
FT /note="E -> A (in dbSNP:rs7050904)"
FT /id="VAR_061246"
FT VARIANT 945
FT /note="I -> F (in dbSNP:rs3761592)"
FT /id="VAR_061247"
FT VARIANT 1032
FT /note="R -> W (in dbSNP:rs17335909)"
FT /id="VAR_061248"
FT VARIANT 1568
FT /note="Q -> E"
FT /evidence="ECO:0000269|PubMed:26506222"
FT /id="VAR_077001"
FT VARIANT 1616
FT /note="E -> G (in dbSNP:rs2305570)"
FT /id="VAR_061249"
SQ SEQUENCE 1709 AA; 187021 MW; 371D0518A0B13D8D CRC64;
MRAGWTPRGF SAFHASLLPG RHPYLAHLGP RDRGARIGSR AYSQGCCSCL WLTYKGKKEG
STKGELGPAA VTDLEIPSYS RGFLPCTPRF PTTWCRGPGC FCGTAVIAGN LGDLARIVGP
SHHASQLLLL QEQDSGNHPT MAESLSEISD SLDVLEAGDE GKKKCKFKAL KSFFVKKKEK
EAEDTQEEEM LELSLSSSNI NISSLQPVRE NQPTKARAKS SMGSKALSHD SIFMLGPEPE
RSASKMFPSM DPQRGRPQQR SHISRTLPKP RSKVPGVVSG AMSGAVLQNV PTSAVWVAGP
KITENPPSRR RRLSIIPPVI QPEIISKNLV EISLDDESPK NPQKKALPHK SLTATQSFSE
LSSGPDCSQS LTAFATLAST SSTQLPIGFS TPATTQGCLD SSAARHKMTL NPRKQKKNLQ
VIIRGLPVWF SHFQGILEGS LQCVTQTLET PNLDEPLPVE PKEEEPNLPL VSEEEKSITK
PKEINEKKLG MDSADSSSQK QNNKTEMYDK KTTDQAPNTD ASRSQGYPMS AAYGRRWRRK
GASVSGLSGC EFKGRSLKQS SEGYGLGDRA GSSPTNKTAR NVPFSHLSLE KDNMEQPTTS
QPETTTPQGL LSDKDDMGRR NAGIDFGSRK ASAAQPIPEN MDNSMVSDPQ PYHEDAASGA
EKTEARASLS LMVESLSTTQ EEAILSVAAE AQVFMNPSHI QLEDQEAFSF DLQKAQSKME
SAQDVQTICK EKPSGNVHQT FTASVLGMTS TTAKGDVYAK TLPPRSLFQS SRKPDAEEVS
SDSENIPEEG DGSEELAHGH SSQSLGKFED EQEVFSESKS FVEDLSSSEE ELDLRCLSQA
LEEPEDAEVF TESSSYVEKY NTSDDCSSSE EDLPLRHPAQ ALGKPKNQQE VSSASNNTPE
EQNDFMQQLP SRCPSQPIMN PTVQQQVPTS SVGTSIKQSD SVEPIPPRHP FQPWVNPKVE
QEVSSSPKSM AVEESISMKP LPPKLLCQPL MNPKVQQNMF SGSEDIAVER VISVEPLLPR
YSPQSLTDPQ IRQISESTAV EEGTYVEPLP PRCLSQPSER PKFLDSMSTS AEWSSPVAPT
PSKYTSPPWV TPKFEELYQL SAHPESTTVE EDISKEQLLP RHLSQLTVGN KVQQLSSNFE
RAAIEADISG SPLPPQYATQ FLKRSKVQEM TSRLEKMAVE GTSNKSPIPR RPTQSFVKFM
AQQIFSESSA LKRGSDVAPL PPNLPSKSLS KPEVKHQVFS DSGSANPKGG ISSKMLPMKH
PLQSLGRPED PQKVFSYSER APGKCSSFKE QLSPRQLSQA LRKPEYEQKV SPVSASSPKE
WRNSKKQLPP KHSSQASDRS KFQPQMSSKG PVNVPVKQSS GEKHLPSSSP FQQQVHSSSV
NAAARRSVFE SNSDNWFLGR DEAFAIKTKK FSQGSKNPIK SIPAPATKPG KFTIAPVRQT
STSGGIYSKK EDLESGDGNN NQHANLSNQD DVEKLFGVRL KRAPPSQKYK SEKQDNFTQL
ASVPSGPISS SVGRGHKIRS TSQGLLDAAG NLTKISYVAD KQQSRPKSES MAKKQPACKT
PGKPAGQQSD YAVSEPVWIT MAKQKQKSFK AHISVKELKT KSNAGADAET KEPKYEGAGS
ANENQPKKMF TSSVHKQEKT AQMKPPKPTK SVGFEAQKIL QVPAMEKETK RSSTLPAKFQ
NPVEPIEPVW FSLARKKAKA WSHMAEITQ
