IQCH_HUMAN
ID IQCH_HUMAN Reviewed; 1027 AA.
AC Q86VS3; A8K8W3; C9JPR6; D6RJ88; Q4G0S6; Q8NEH9; Q9BWX2; Q9H9Y1; Q9UF88;
DT 03-APR-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 2.
DT 03-AUG-2022, entry version 138.
DE RecName: Full=IQ domain-containing protein H;
DE AltName: Full=Testis development protein NYD-SP5;
GN Name=IQCH;
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] (ISOFORM 1), FUNCTION, TISSUE SPECIFICITY, AND
RP VARIANT LEU-932.
RX PubMed=15897968; DOI=10.1111/j.1745-7262.2005.00041.x;
RA Yin L.L., Li J.M., Zhou Z.M., Sha J.H.;
RT "Identification of a novel testis-specific gene and its potential roles in
RT testis development/spermatogenesis.";
RL Asian J. Androl. 7:127-137(2005).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 4), AND VARIANT
RP LEU-932.
RC TISSUE=Testis;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LEU-932.
RA Mural R.J., Istrail S., Sutton G.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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 2; 3 AND 5), AND
RP VARIANT LEU-932.
RC TISSUE=Medulla oblongata, and Testis;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 810-1027 (ISOFORMS 1/2), AND
RP VARIANT LEU-932.
RC TISSUE=Testis;
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).
CC -!- FUNCTION: May play a regulatory role in spermatogenesis.
CC {ECO:0000269|PubMed:15897968}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=Q86VS3-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q86VS3-2; Sequence=VSP_024188, VSP_024194;
CC Name=3;
CC IsoId=Q86VS3-3; Sequence=VSP_024190, VSP_024192, VSP_024193;
CC Name=4;
CC IsoId=Q86VS3-4; Sequence=VSP_024189, VSP_024191, VSP_024194,
CC VSP_024195, VSP_024196;
CC Name=5;
CC IsoId=Q86VS3-5; Sequence=VSP_045251, VSP_045252;
CC -!- TISSUE SPECIFICITY: Expressed in fetal and adult testis, in germ cells
CC but not somatic cells. {ECO:0000269|PubMed:15897968}.
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DR EMBL; AY014282; AAK27307.2; -; mRNA.
DR EMBL; AK022538; BAB14087.1; -; mRNA.
DR EMBL; AK292478; BAF85167.1; -; mRNA.
DR EMBL; AC012568; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC016355; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC106000; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC110292; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471082; EAW77796.1; -; Genomic_DNA.
DR EMBL; BC031041; AAH31041.2; -; mRNA.
DR EMBL; BC039292; AAH39292.1; -; mRNA.
DR EMBL; BC039463; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC048964; AAH48964.1; -; mRNA.
DR EMBL; AL133556; CAB63711.1; -; mRNA.
DR CCDS; CCDS10223.2; -. [Q86VS3-5]
DR CCDS; CCDS32273.1; -. [Q86VS3-1]
DR CCDS; CCDS61680.1; -. [Q86VS3-4]
DR CCDS; CCDS61681.1; -. [Q86VS3-2]
DR CCDS; CCDS76772.1; -. [Q86VS3-3]
DR PIR; T43438; T43438.
DR RefSeq; NP_001026885.1; NM_001031715.2. [Q86VS3-1]
DR RefSeq; NP_001271276.1; NM_001284347.1. [Q86VS3-2]
DR RefSeq; NP_001271277.1; NM_001284348.1. [Q86VS3-4]
DR RefSeq; NP_001271278.1; NM_001284349.1. [Q86VS3-3]
DR RefSeq; NP_001309404.1; NM_001322475.1.
DR RefSeq; NP_073621.2; NM_022784.2. [Q86VS3-5]
DR AlphaFoldDB; Q86VS3; -.
DR BioGRID; 122305; 6.
DR IntAct; Q86VS3; 3.
DR MINT; Q86VS3; -.
DR STRING; 9606.ENSP00000336861; -.
DR iPTMnet; Q86VS3; -.
DR PhosphoSitePlus; Q86VS3; -.
DR BioMuta; IQCH; -.
DR DMDM; 269849608; -.
DR jPOST; Q86VS3; -.
DR MassIVE; Q86VS3; -.
DR PaxDb; Q86VS3; -.
DR PeptideAtlas; Q86VS3; -.
DR PRIDE; Q86VS3; -.
DR ProteomicsDB; 70064; -. [Q86VS3-1]
DR ProteomicsDB; 70065; -. [Q86VS3-2]
DR ProteomicsDB; 70067; -. [Q86VS3-4]
DR Antibodypedia; 26248; 30 antibodies from 11 providers.
DR DNASU; 64799; -.
DR Ensembl; ENST00000335894.9; ENSP00000336861.4; ENSG00000103599.20. [Q86VS3-1]
DR Ensembl; ENST00000358767.7; ENSP00000351617.4; ENSG00000103599.20. [Q86VS3-4]
DR Ensembl; ENST00000512104.5; ENSP00000427323.1; ENSG00000103599.20. [Q86VS3-5]
DR Ensembl; ENST00000546225.5; ENSP00000444118.1; ENSG00000103599.20. [Q86VS3-2]
DR Ensembl; ENST00000629425.2; ENSP00000486970.1; ENSG00000103599.20. [Q86VS3-3]
DR GeneID; 64799; -.
DR KEGG; hsa:64799; -.
DR MANE-Select; ENST00000335894.9; ENSP00000336861.4; NM_001031715.3; NP_001026885.2.
DR UCSC; uc002aqm.4; human. [Q86VS3-1]
DR CTD; 64799; -.
DR DisGeNET; 64799; -.
DR GeneCards; IQCH; -.
DR HGNC; HGNC:25721; IQCH.
DR HPA; ENSG00000103599; Tissue enhanced (testis).
DR MIM; 612523; gene.
DR neXtProt; NX_Q86VS3; -.
DR OpenTargets; ENSG00000103599; -.
DR PharmGKB; PA142671654; -.
DR VEuPathDB; HostDB:ENSG00000103599; -.
DR eggNOG; ENOG502QSF3; Eukaryota.
DR GeneTree; ENSGT00390000008908; -.
DR HOGENOM; CLU_1708373_0_0_1; -.
DR InParanoid; Q86VS3; -.
DR OMA; VNIFPKH; -.
DR OrthoDB; 203701at2759; -.
DR PhylomeDB; Q86VS3; -.
DR TreeFam; TF328488; -.
DR PathwayCommons; Q86VS3; -.
DR SignaLink; Q86VS3; -.
DR BioGRID-ORCS; 64799; 14 hits in 1069 CRISPR screens.
DR ChiTaRS; IQCH; human.
DR GenomeRNAi; 64799; -.
DR Pharos; Q86VS3; Tdark.
DR PRO; PR:Q86VS3; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q86VS3; protein.
DR Bgee; ENSG00000103599; Expressed in buccal mucosa cell and 111 other tissues.
DR ExpressionAtlas; Q86VS3; baseline and differential.
DR Genevisible; Q86VS3; HS.
DR InterPro; IPR000048; IQ_motif_EF-hand-BS.
DR InterPro; IPR038752; IQCH.
DR PANTHER; PTHR14465; PTHR14465; 1.
DR PROSITE; PS50096; IQ; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..1027
FT /note="IQ domain-containing protein H"
FT /id="PRO_0000282565"
FT DOMAIN 369..398
FT /note="IQ"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00116"
FT REGION 216..252
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1007..1027
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 235..252
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 1..252
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024188"
FT VAR_SEQ 1..248
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024189"
FT VAR_SEQ 1..173
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024190"
FT VAR_SEQ 130..168
FT /note="IKVSKLIKGSNISSLTVLPSSHCTDPYFTPIPVLQADAH -> RKIGLNVKI
FT LQDPENIHHRAAVNANYGISLPYINQRKAC (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045251"
FT VAR_SEQ 169..1027
FT /note="Missing (in isoform 5)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_045252"
FT VAR_SEQ 249..250
FT /note="DR -> MT (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024191"
FT VAR_SEQ 459..478
FT /note="YSQPVREHIADFNTQQNMQL -> ITLLPANLSATSITHHIMAP (in
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024192"
FT VAR_SEQ 479..1027
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_024193"
FT VAR_SEQ 545..635
FT /note="Missing (in isoform 2 and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:15489334"
FT /id="VSP_024194"
FT VAR_SEQ 934..960
FT /note="ERQGTVFILYEHLKRHKLGMLTIGEDL -> NNRRGSPGGPHDLCSPSLHHP
FT SRNIST (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024195"
FT VAR_SEQ 961..1027
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_024196"
FT VARIANT 932
FT /note="V -> L (in dbSNP:rs3985641)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15897968,
FT ECO:0000269|PubMed:17974005, ECO:0000269|Ref.4"
FT /id="VAR_051077"
FT CONFLICT 33
FT /note="S -> T (in Ref. 1; AAK27307)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1027 AA; 117349 MW; B36D504EE4E303E6 CRC64;
MAQNTENHDP VGSILIQIHE DLYQLKEKLT KFSPEEKGET LDIQSLETAI KRTEVGLRIH
IEKYLNVVNQ NVLTTSVNDE SLYTPQASKW LLPTVIDQKS FIFPQESEGT FWQPQRQHSS
SLPVFPRAKI KVSKLIKGSN ISSLTVLPSS HCTDPYFTPI PVLQADAHKG ILSMIERGLI
PPTARITFQN PPITPRAAPL HSFDEARKIP TVATFTIPRE PPPSPAEVKF FPKKQRSKGK
SRRSRGHHDR KAMKVKTPLR ALKSLWDYDF LIYDGVIDNT APDFLAFKEH FSLAWGGIFS
LLEHVEKFLR NYAIPEVKIK GNNLVALLPE FELTNKLTRY DLLSVLEDPA HVQMLINLPG
QRYKGQDGNS EAAMKIQATW KCYKARKFFL FYRQQKWASG VIAIAWLLYC HKTRLKKILK
ESRQRHLENF RIRAKHLAAN WNRIRTSRRT IIHIPSLGYS QPVREHIADF NTQQNMQLGR
LCDILDANVN VIYICSHHMN DELVLYYKKI LSLHAAVKSG NLEDRSDLQD RFKIITPEAV
NIFPKHHMCL ATHLMYSPKA IKRIKNLIRG TEAYIVSGLL HRDDLAVADM LDIPILGSEP
ELAHLYSTKS GGKRVFDSAN VAVPPGIYDI YSQQQMIEQL SQLITDHLQI QRWLFKMDSE
FRGNGTAFCD IPSYLKCYKW VLKESSRYGL EDWRKKWAQE PALVKISEEL AGILAQHAQP
VNEKRFPTWR KFLQTFLSQG GVIEAFPPAD NVTNLTVDML IEPNGKISVL STGDQLHAES
PFISSGTTVP QTSVDPQVLT YLCLQIGKAC RMRDVVGYFS IDLVTFIDPS TLEQQVWATG
LNLAYSDQLA LTQLTLYLTN GHLDCSLSTL EVPRFVPKER KKTKCMSALS MPMLATSRYA
VMTTQLRHSN LSLVFHYVFL QICRAHGIGY DVEERQGTVF ILYEHLKRHK LGMLTIGEDL
QGVLMTFARH LFIIHQEISA PNMQGETNFK TTIADIETIL RVTKENKMRF EEEQQSKDDK
NLSKPKK
