Q8NHS4 (CLHC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Clathrin heavy chain linker domain-containing protein 1

Gene names

Name:	CLHC1
Synonyms:	C2orf63

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	586 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

Ontologies

Keywords
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
None. [Check GOA]

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q8NHS4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 2 (identifier: Q8NHS4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-122: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 586	586	Clathrin heavy chain linker domain-containing protein 1		PRO_0000325870
Regions
	Coiled coil	174 – 232	59	Potential
Natural variations
	Alternative sequence	1 – 122	122	Missing in isoform 2.		VSP_032461
	Natural variant	178	1	A → V. Ref.1 Ref.3 Corresponds to variant rs9677948 [ dbSNP | Ensembl ].		VAR_039944
	Natural variant	426	1	V → I. Ref.1 Ref.3 Corresponds to variant rs6716066 [ dbSNP | Ensembl ].		VAR_039945
	Natural variant	503	1	A → V. Ref.3 Corresponds to variant rs14026 [ dbSNP | Ensembl ].		VAR_039946
	Natural variant	552	1	D → Y. Corresponds to variant rs3186099 [ dbSNP | Ensembl ].		VAR_039947

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified January 11, 2011. Version 3. Checksum: 52458D0C3B64468E	FASTA	586	67,250
	10 20 30 40 50 60 MSVHQIRKHA VLPPIICRSD KEFLESVQRY IITETERLGC SEEGPADEYY IIYRNVFDKV 70 80 90 100 110 120 IEHITAYKSI LTSIKKEYDA FIETIKKDRR TTFCLHGKLK GLAAEPTALV YYRKRTIQLE 130 140 150 160 170 180 AKMRIIESNS SKIQSQIDHI KQCRAEYDTK EVKYCTFSKD PSKPIPGMTL QESMNLDALT 190 200 210 220 230 240 KYMKHLEDKY AEIKQAMLIK YVPAQRKADL DEEMIVLLKR RDVAENLNKK LQFCHQRLQI 250 260 270 280 290 300 ISQALSSWVK SDMSSPFQDF VEQIQKTKYL QGDQGIVEEL MEDDPRRAKE AEIMLHYIER 310 320 330 340 350 360 FNELISLGEY EKAACYAANS PRRILRNIGT MNTFKAVGKI RGKPLPLLLF FEALFITSHA 370 380 390 400 410 420 FPCPVDAALT LEGIKCGLSE KRLDLVTNWV TQERLTFSEE AGDVICDYGE QDTYNKAKCL 430 440 450 460 470 480 ALAQIVYSEC GLHKKAILCL CKQGQTHRVM EYIQQLKDFT TDDLLQLLMS CPQVELIQCL 490 500 510 520 530 540 TKELNEKQPS LSFGLAILHL FSADMKKVGI KLLQEINKGG IDAVESLMIN DSFCSIEKWQ 550 560 570 580 EVANICSQNG FDKLSNDITS ILRSQAAVTE ISEEDDAVNL MEHVFW
	Isoform 2 [UniParc]. Checksum: 61E2184AA48E341C	FASTA	464	52,984
	10 20 30 40 50 60 MRIIESNSSK IQSQIDHIKQ CRAEYDTKEV KYCTFSKDPS KPIPGMTLQE SMNLDALTKY 70 80 90 100 110 120 MKHLEDKYAE IKQAMLIKYV PAQRKADLDE EMIVLLKRRD VAENLNKKLQ FCHQRLQIIS 130 140 150 160 170 180 QALSSWVKSD MSSPFQDFVE QIQKTKYLQG DQGIVEELME DDPRRAKEAE IMLHYIERFN 190 200 210 220 230 240 ELISLGEYEK AACYAANSPR RILRNIGTMN TFKAVGKIRG KPLPLLLFFE ALFITSHAFP 250 260 270 280 290 300 CPVDAALTLE GIKCGLSEKR LDLVTNWVTQ ERLTFSEEAG DVICDYGEQD TYNKAKCLAL 310 320 330 340 350 360 AQIVYSECGL HKKAILCLCK QGQTHRVMEY IQQLKDFTTD DLLQLLMSCP QVELIQCLTK 370 380 390 400 410 420 ELNEKQPSLS FGLAILHLFS ADMKKVGIKL LQEINKGGID AVESLMINDS FCSIEKWQEV 430 440 450 460 ANICSQNGFD KLSNDITSIL RSQAAVTEIS EEDDAVNLME HVFW

References

[1]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS VAL-178 AND ILE-426. Tissue: Testis.
[2]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS VAL-178; ILE-426 AND VAL-503. Tissue: Brain and Testis.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK315683 mRNA. Translation: BAG38048.1. AC012358 Genomic DNA. No translation available. AC093165 Genomic DNA. Translation: AAY24030.1. BC029502 mRNA. Translation: AAH29502.1. BC036908 mRNA. Translation: AAH36908.1.
IPI	IPI00783112. IPI00887948.
RefSeq	NP_001129070.1. NM_001135598.1. NP_689598.2. NM_152385.2.
UniGene	Hs.347014.
3D structure databases
ProteinModelPortal	Q8NHS4.
SMR	Q8NHS4. Positions 297-440.
ModBase	Search...
PTM databases
PhosphoSite	Q8NHS4.
Polymorphism databases
DMDM	172045812.
Proteomic databases
PaxDb	Q8NHS4.
PRIDE	Q8NHS4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000401408; ENSP00000384869; ENSG00000162994. ENST00000406076; ENSP00000385512; ENSG00000162994. ENST00000407122; ENSP00000385778; ENSG00000162994.
GeneID	130162.
KEGG	hsa:130162.
UCSC	uc002ryi.2. human.
Organism-specific databases
CTD	130162.
GeneCards	GC02M055400.
HGNC	HGNC:26453. CLHC1.
HPA	HPA045418.
neXtProt	NX_Q8NHS4.
PharmGKB	PA162379359.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG304835.
HOGENOM	HOG000060111.
HOVERGEN	HBG107579.
InParanoid	Q8NHS4.
OMA	CGLHKKA.
OrthoDB	EOG4CG07X.
Gene expression databases
ArrayExpress	Q8NHS4.
Bgee	Q8NHS4.
CleanEx	HS_C2orf63.
Genevestigator	Q8NHS4.
Family and domain databases
Gene3D	1.25.40.30. 2 hits.
InterPro	IPR016024. ARM-type_fold. IPR012331. Clathrin_H-chain_linker. IPR017212. Clathrin_heavy-chain-rel. [Graphical view]
PIRSF	PIRSF037469. Clathrin_H-chain-rel. 1 hit.
SUPFAM	SSF48371. ARM-type_fold. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	130162.
NextBio	82716.

Entry information

Entry name

CLHC1_HUMAN

Accession

Primary (citable) accession number: Q8NHS4
Secondary accession number(s): B2RDV1, Q53R93, Q8N403

Entry history

Integrated into UniProtKB/Swiss-Prot:	March 18, 2008
Last sequence update:	January 11, 2011
Last modified:	May 1, 2013
This is version 71 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.