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   27-MAR-2024, entry version 143.
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;
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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; 13.
DR   IntAct; Q8NHS4; 4.
DR   MINT; Q8NHS4; -.
DR   STRING; 9606.ENSP00000384869; -.
DR   GlyGen; Q8NHS4; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q8NHS4; -.
DR   PhosphoSitePlus; Q8NHS4; -.
DR   BioMuta; CLHC1; -.
DR   DMDM; 317373465; -.
DR   EPD; Q8NHS4; -.
DR   MassIVE; Q8NHS4; -.
DR   PaxDb; 9606-ENSP00000384869; -.
DR   PeptideAtlas; Q8NHS4; -.
DR   ProteomicsDB; 73748; -. [Q8NHS4-1]
DR   ProteomicsDB; 73749; -. [Q8NHS4-2]
DR   Antibodypedia; 30304; 34 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   AGR; HGNC:26453; -.
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; FQVIEYV; -.
DR   OrthoDB; 2908120at2759; -.
DR   PhylomeDB; Q8NHS4; -.
DR   TreeFam; TF328858; -.
DR   PathwayCommons; Q8NHS4; -.
DR   SignaLink; Q8NHS4; -.
DR   BioGRID-ORCS; 130162; 4 hits in 1139 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 118 other cell types or tissues.
DR   ExpressionAtlas; Q8NHS4; baseline and differential.
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; CLATHRIN HEAVY CHAIN LINKER DOMAIN-CONTAINING PROTEIN 1; 1.
DR   PANTHER; PTHR10292; CLATHRIN HEAVY CHAIN RELATED; 1.
DR   Pfam; PF13838; Clathrin_H_link; 1.
DR   Pfam; PF15739; TSNAXIP1_N; 1.
DR   PIRSF; PIRSF037469; Clathrin_H-chain-rel; 1.
DR   SUPFAM; SSF48371; ARM repeat; 1.
DR   Genevisible; Q8NHS4; HS.
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
//