CLHC1_HUMAN
ID CLHC1_HUMAN Reviewed; 586 AA.
AC Q8NHS4; B2RDV1; Q53R93; Q8N403;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 135.
DE RecName: Full=Clathrin heavy chain linker domain-containing protein 1;
GN Name=CLHC1; Synonyms=C2orf63;
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 1), AND VARIANTS VAL-178
RP AND ILE-426.
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15815621; DOI=10.1038/nature03466;
RA Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P.,
RA Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C.,
RA Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L.,
RA Du H., Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A.,
RA Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J.,
RA Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M.,
RA Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T.,
RA Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S.,
RA Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
RA McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
RA Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S.,
RA Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C.,
RA Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M.,
RA Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C.,
RA Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J.,
RA Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E.,
RA Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X.,
RA Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M.,
RA Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
RA Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
RA Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H.,
RA Wilson R.K.;
RT "Generation and annotation of the DNA sequences of human chromosomes 2 and
RT 4.";
RL Nature 434:724-731(2005).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), AND VARIANTS
RP VAL-178; ILE-426 AND VAL-503.
RC TISSUE=Brain, 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).
CC -!- INTERACTION:
CC Q8NHS4; Q96L14: CEP170P1; NbExp=3; IntAct=EBI-10203156, EBI-743488;
CC Q8NHS4; P25791: LMO2; NbExp=3; IntAct=EBI-10203156, EBI-739696;
CC Q8NHS4; Q96ES7: SGF29; NbExp=3; IntAct=EBI-10203156, EBI-743117;
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q8NHS4-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q8NHS4-2; Sequence=VSP_032461;
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK315683; BAG38048.1; -; mRNA.
DR EMBL; AC012358; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC093165; AAY24030.1; -; Genomic_DNA.
DR EMBL; BC029502; AAH29502.1; -; mRNA.
DR EMBL; BC036908; AAH36908.1; -; mRNA.
DR CCDS; CCDS33201.1; -. [Q8NHS4-1]
DR CCDS; CCDS46287.1; -. [Q8NHS4-2]
DR RefSeq; NP_001129070.1; NM_001135598.1. [Q8NHS4-2]
DR RefSeq; NP_689598.2; NM_152385.2. [Q8NHS4-1]
DR RefSeq; XP_005264193.1; XM_005264136.2.
DR RefSeq; XP_011530821.1; XM_011532519.2.
DR RefSeq; XP_011530822.1; XM_011532520.2.
DR RefSeq; XP_011530823.1; XM_011532521.2.
DR RefSeq; XP_011530824.1; XM_011532522.2.
DR RefSeq; XP_011530825.1; XM_011532523.2.
DR RefSeq; XP_011530826.1; XM_011532524.1.
DR RefSeq; XP_011530827.1; XM_011532525.2.
DR RefSeq; XP_011530829.1; XM_011532527.2.
DR RefSeq; XP_011530830.1; XM_011532528.1.
DR RefSeq; XP_011530831.1; XM_011532529.2.
DR RefSeq; XP_011530832.1; XM_011532530.1.
DR RefSeq; XP_016858824.1; XM_017003335.1.
DR RefSeq; XP_016858825.1; XM_017003336.1.
DR RefSeq; XP_016858826.1; XM_017003337.1.
DR RefSeq; XP_016858827.1; XM_017003338.1.
DR AlphaFoldDB; Q8NHS4; -.
DR SMR; Q8NHS4; -.
DR BioGRID; 126226; 11.
DR IntAct; Q8NHS4; 3.
DR STRING; 9606.ENSP00000384869; -.
DR iPTMnet; Q8NHS4; -.
DR PhosphoSitePlus; Q8NHS4; -.
DR BioMuta; CLHC1; -.
DR DMDM; 317373465; -.
DR EPD; Q8NHS4; -.
DR MassIVE; Q8NHS4; -.
DR PaxDb; Q8NHS4; -.
DR PeptideAtlas; Q8NHS4; -.
DR PRIDE; Q8NHS4; -.
DR ProteomicsDB; 73748; -. [Q8NHS4-1]
DR ProteomicsDB; 73749; -. [Q8NHS4-2]
DR Antibodypedia; 30304; 23 antibodies from 9 providers.
DR DNASU; 130162; -.
DR Ensembl; ENST00000401408.6; ENSP00000384869.1; ENSG00000162994.16. [Q8NHS4-1]
DR Ensembl; ENST00000406076.5; ENSP00000385512.1; ENSG00000162994.16. [Q8NHS4-2]
DR Ensembl; ENST00000407122.5; ENSP00000385778.1; ENSG00000162994.16. [Q8NHS4-1]
DR GeneID; 130162; -.
DR KEGG; hsa:130162; -.
DR MANE-Select; ENST00000401408.6; ENSP00000384869.1; NM_152385.4; NP_689598.2.
DR UCSC; uc002ryi.3; human. [Q8NHS4-1]
DR CTD; 130162; -.
DR DisGeNET; 130162; -.
DR GeneCards; CLHC1; -.
DR HGNC; HGNC:26453; CLHC1.
DR HPA; ENSG00000162994; Low tissue specificity.
DR neXtProt; NX_Q8NHS4; -.
DR OpenTargets; ENSG00000162994; -.
DR PharmGKB; PA162379359; -.
DR VEuPathDB; HostDB:ENSG00000162994; -.
DR eggNOG; KOG0985; Eukaryota.
DR GeneTree; ENSGT00950000183166; -.
DR HOGENOM; CLU_033164_0_0_1; -.
DR InParanoid; Q8NHS4; -.
DR OMA; KSQRTAF; -.
DR OrthoDB; 665507at2759; -.
DR PhylomeDB; Q8NHS4; -.
DR TreeFam; TF328858; -.
DR PathwayCommons; Q8NHS4; -.
DR SignaLink; Q8NHS4; -.
DR BioGRID-ORCS; 130162; 4 hits in 1061 CRISPR screens.
DR ChiTaRS; CLHC1; human.
DR GenomeRNAi; 130162; -.
DR Pharos; Q8NHS4; Tdark.
DR PRO; PR:Q8NHS4; -.
DR Proteomes; UP000005640; Chromosome 2.
DR RNAct; Q8NHS4; protein.
DR Bgee; ENSG00000162994; Expressed in right uterine tube and 116 other tissues.
DR ExpressionAtlas; Q8NHS4; baseline and differential.
DR Genevisible; Q8NHS4; HS.
DR Gene3D; 1.25.40.30; -; 1.
DR InterPro; IPR016024; ARM-type_fold.
DR InterPro; IPR012331; Clathrin_H-chain_linker.
DR InterPro; IPR017212; CLHC1.
DR InterPro; IPR032755; TSNAXIP1_N.
DR PANTHER; PTHR10292:SF11; PTHR10292:SF11; 1.
DR Pfam; PF15739; TSNAXIP1_N; 1.
DR PIRSF; PIRSF037469; Clathrin_H-chain-rel; 1.
DR SUPFAM; SSF48371; SSF48371; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Coiled coil; Reference proteome.
FT CHAIN 1..586
FT /note="Clathrin heavy chain linker domain-containing
FT protein 1"
FT /id="PRO_0000325870"
FT COILED 174..232
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..122
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_032461"
FT VARIANT 178
FT /note="A -> V (in dbSNP:rs9677948)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039944"
FT VARIANT 426
FT /note="V -> I (in dbSNP:rs6716066)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_039945"
FT VARIANT 503
FT /note="A -> V (in dbSNP:rs14026)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_039946"
FT VARIANT 552
FT /note="D -> Y (in dbSNP:rs3186099)"
FT /id="VAR_039947"
SQ SEQUENCE 586 AA; 67250 MW; 52458D0C3B64468E CRC64;
MSVHQIRKHA VLPPIICRSD KEFLESVQRY IITETERLGC SEEGPADEYY IIYRNVFDKV
IEHITAYKSI LTSIKKEYDA FIETIKKDRR TTFCLHGKLK GLAAEPTALV YYRKRTIQLE
AKMRIIESNS SKIQSQIDHI KQCRAEYDTK EVKYCTFSKD PSKPIPGMTL QESMNLDALT
KYMKHLEDKY AEIKQAMLIK YVPAQRKADL DEEMIVLLKR RDVAENLNKK LQFCHQRLQI
ISQALSSWVK SDMSSPFQDF VEQIQKTKYL QGDQGIVEEL MEDDPRRAKE AEIMLHYIER
FNELISLGEY EKAACYAANS PRRILRNIGT MNTFKAVGKI RGKPLPLLLF FEALFITSHA
FPCPVDAALT LEGIKCGLSE KRLDLVTNWV TQERLTFSEE AGDVICDYGE QDTYNKAKCL
ALAQIVYSEC GLHKKAILCL CKQGQTHRVM EYIQQLKDFT TDDLLQLLMS CPQVELIQCL
TKELNEKQPS LSFGLAILHL FSADMKKVGI KLLQEINKGG IDAVESLMIN DSFCSIEKWQ
EVANICSQNG FDKLSNDITS ILRSQAAVTE ISEEDDAVNL MEHVFW
