Q4G0X9 (CCD40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 40

Gene names

Name:	CCDC40
Synonyms:	KIAA1640

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	1142 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Function	Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39. Ref.6
Subcellular location	Cytoplasm By similarity. Cell projection › cilium By similarity. Note: Localizes to cytoplasm and motile cilium By similarity.
Involvement in disease	Primary ciliary dyskinesia 15 (CILD15) [MIM:613808]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6
Sequence similarities	Belongs to the CCDC40 family.
Sequence caution	The sequence BAB13466.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Ontologies

Keywords
Cellular component	Cell projection Cilium Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Ciliopathy Primary ciliary dyskinesia
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axonemal dynein complex assembly Inferred from mutant phenotype Ref.6. Source: UniProtKB ciliary cell motility Inferred from electronic annotation. Source: Compara determination of digestive tract left/right asymmetry Inferred from mutant phenotype PubMed 22693285. Source: BHF-UCL determination of liver left/right asymmetry Inferred from mutant phenotype PubMed 22693285. Source: BHF-UCL determination of pancreatic left/right asymmetry Inferred from mutant phenotype PubMed 22693285. Source: BHF-UCL epithelial cilium movement involved in determination of left/right asymmetry Inferred from mutant phenotype Ref.6. Source: UniProtKB flagellar cell motility Inferred from electronic annotation. Source: Compara heart looping Inferred from mutant phenotype PubMed 22693285. Source: BHF-UCL lung development Inferred from mutant phenotype PubMed 22693285. Source: BHF-UCL regulation of cilium beat frequency Inferred from mutant phenotype Ref.6. Source: BHF-UCL
Cellular_component	cilium Inferred from sequence or structural similarity. Source: UniProtKB cytoplasm Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q4G0X9-1)

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: Q4G0X9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     945-945: V → KYCRTTRDAR...HEHRTHTARA
     946-1142: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q4G0X9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-217: Missing.
     218-225: EEFVSQEP → MVSLSLPP

Isoform 4 (identifier: Q4G0X9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     521-579: RGCQHQAKST...TQCLTKQVAL → SVSLERFPSQ...AAVDNRIREC
     580-1142: Missing.

Note: No experimental confirmation available.

Isoform 5 (identifier: Q4G0X9-5)

The sequence of this isoform differs from the canonical sequence as follows:
     440-478: DLYVDQLTTR...EDTRILRKAV → GVGDTGAAFI...VVARVSPAEL
     479-1142: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1142	1142	Coiled-coil domain-containing protein 40		PRO_0000305250
Regions
	Coiled coil	293 – 319	27	Potential
	Coiled coil	349 – 470	122	Potential
	Coiled coil	526 – 627	102	Potential
	Coiled coil	684 – 950	267	Potential
	Coiled coil	1005 – 1054	50	Potential
Natural variations
	Alternative sequence	1 – 217	217	Missing in isoform 3.		VSP_028302
	Alternative sequence	218 – 225	8	EEFVSQEP → MVSLSLPP in isoform 3.		VSP_028303
	Alternative sequence	440 – 478	39	DLYVD…LRKAV → GVGDTGAAFIPKTTQGDQVS GRGKKKPGTVVARVSPAEL in isoform 5.		VSP_028304
	Alternative sequence	479 – 1142	664	Missing in isoform 5.		VSP_028305
	Alternative sequence	521 – 579	59	RGCQH…KQVAL → SVSLERFPSQNINTARSRLS TTWHSAGILLRGSFLPGASR AFASVCYGGAAVDNRIREC in isoform 4.		VSP_028306
	Alternative sequence	580 – 1142	563	Missing in isoform 4.		VSP_028307
	Alternative sequence	945	1	V → KYCRTTRDARRHVHEQHGTR AGTCTNNTGRAQARARTTRD ARRHVHEQHGTRAGTCTNNT GRAQARARTTRDARRHVHEH RTHTARA in isoform 2.		VSP_028308
	Alternative sequence	946 – 1142	197	Missing in isoform 2.		VSP_028309
	Natural variant	8	1	A → P. Corresponds to variant rs2289530 [ dbSNP | Ensembl ].		VAR_035193
Experimental info
	Sequence conflict	117	1	F → L in BAA91365. Ref.2
	Sequence conflict	362	1	K → R in AAH35251. Ref.4
	Sequence conflict	405	1	Q → R in BAA91365. Ref.2
	Sequence conflict	553	1	S → G in AAH35251. Ref.4
	Sequence conflict	816	1	E → G in AAH35251. Ref.4
Isoform 3:
	Sequence conflict	8	1	P → A in BAB13466. Ref.1
Isoform 4:
	Sequence conflict	570	1	A → T in BAA91365. Ref.2

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 2, 2007. Version 2. Checksum: B18A5808B0BEC212	FASTA	1,142	130,113
	10 20 30 40 50 60 MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST EHPEEVTTQA 70 80 90 100 110 120 EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET SSPEGQISAA DTTYPYFSPP 130 140 150 160 170 180 QELPGEEAYD SVSGEAGLQG FQQEATGPPE SRERRVTSPE PSHGVLGPSE QMGQVTSGPA 190 200 210 220 230 240 VGRLTGSTEE PQGQVLPMGV QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD 250 260 270 280 290 300 LPVFQDQIQQ PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN 310 320 330 340 350 360 RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD RHAMASSERR 370 380 390 400 410 420 QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH LFYMQNIDQD MRDDIRVMTQ 430 440 450 460 470 480 VVKKAETERI RAEIEKKKQD LYVDQLTTRA QQLEEDIALF EAQYLAQAED TRILRKAVSE 490 500 510 520 530 540 ACTEIDAISV EKRRIMQQWA SSLVGMKHRD EAHRAVLEAL RGCQHQAKST DGEIEAYKKS 550 560 570 580 590 600 IMKEEEKNEK LASILNRTET EATLLQKLTT QCLTKQVALQ SQFNTYRLTL QDTEDALSQD 610 620 630 640 650 660 QLEQMILTEE LQAIRQAIQG ELELRRKTDA AIREKLQEHM TSNKTTKYFN QLILRLQKEK 670 680 690 700 710 720 TNMMTHLSKI NGDIAQTTLD ITHTSSRLDA HQKTLVELDQ DVKKVNELIT NSQSEISRRT 730 740 750 760 770 780 ILIERKQGLI NFLNKQLERM VSELGGEEVG PLELEIKRLS KLIDEHDGKA VQAQVTWLRL 790 800 810 820 830 840 QQEMVKVTQE QEEQLASLDA SKKELHIMEQ KKLRVESKIE QEKKEQKEIE HHMKDLDNDL 850 860 870 880 890 900 KKLNMLMNKN RCSSEELEQN NRVTENEFVR SLKASERETI KMQDKLNQLS EEKATLLNQL 910 920 930 940 950 960 VEAEHQIMLW EKKIQLAKEM RSSVDSEIGQ TEIRAMKGEI HRMKVRLGQL LKQQEKMIRA 970 980 990 1000 1010 1020 MELAVARRET VTTQAEGQRK MDRKALTRTD FHHKQLELRR KIRDVRKATD ECTKTVLELE 1030 1040 1050 1060 1070 1080 ETQRNVSSSL LEKQEKLSVI QADFDTLEAD LTRLGALKRQ NLSEIVALQT RLKHLQAVKE 1090 1100 1110 1120 1130 1140 GRYVFLFRSK QSLVLERQRL DKRLALIATI LDRVRDEYPQ FQEALHKVSQ MIANKLESPG PS
	Isoform 2 [UniParc]. Checksum: 35C3D9DD4E101603	FASTA	1,031	117,053
	10 20 30 40 50 60 MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST EHPEEVTTQA 70 80 90 100 110 120 EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET SSPEGQISAA DTTYPYFSPP 130 140 150 160 170 180 QELPGEEAYD SVSGEAGLQG FQQEATGPPE SRERRVTSPE PSHGVLGPSE QMGQVTSGPA 190 200 210 220 230 240 VGRLTGSTEE PQGQVLPMGV QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD 250 260 270 280 290 300 LPVFQDQIQQ PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN 310 320 330 340 350 360 RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD RHAMASSERR 370 380 390 400 410 420 QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH LFYMQNIDQD MRDDIRVMTQ 430 440 450 460 470 480 VVKKAETERI RAEIEKKKQD LYVDQLTTRA QQLEEDIALF EAQYLAQAED TRILRKAVSE 490 500 510 520 530 540 ACTEIDAISV EKRRIMQQWA SSLVGMKHRD EAHRAVLEAL RGCQHQAKST DGEIEAYKKS 550 560 570 580 590 600 IMKEEEKNEK LASILNRTET EATLLQKLTT QCLTKQVALQ SQFNTYRLTL QDTEDALSQD 610 620 630 640 650 660 QLEQMILTEE LQAIRQAIQG ELELRRKTDA AIREKLQEHM TSNKTTKYFN QLILRLQKEK 670 680 690 700 710 720 TNMMTHLSKI NGDIAQTTLD ITHTSSRLDA HQKTLVELDQ DVKKVNELIT NSQSEISRRT 730 740 750 760 770 780 ILIERKQGLI NFLNKQLERM VSELGGEEVG PLELEIKRLS KLIDEHDGKA VQAQVTWLRL 790 800 810 820 830 840 QQEMVKVTQE QEEQLASLDA SKKELHIMEQ KKLRVESKIE QEKKEQKEIE HHMKDLDNDL 850 860 870 880 890 900 KKLNMLMNKN RCSSEELEQN NRVTENEFVR SLKASERETI KMQDKLNQLS EEKATLLNQL 910 920 930 940 950 960 VEAEHQIMLW EKKIQLAKEM RSSVDSEIGQ TEIRAMKGEI HRMKKYCRTT RDARRHVHEQ 970 980 990 1000 1010 1020 HGTRAGTCTN NTGRAQARAR TTRDARRHVH EQHGTRAGTC TNNTGRAQAR ARTTRDARRH 1030 VHEHRTHTAR A
	Isoform 3 [UniParc]. Checksum: A54BBA3F9B469BDB	FASTA	925	107,153
	10 20 30 40 50 60 MVSLSLPPVI PPGVPDAHPR EGDLPVFQDQ IQQPSTEEGA MAERVESEGS DEEAEDEGSQ 70 80 90 100 110 120 LVVLDPDHPL MVRFQAALKN YLNRQIEKLK LDLQELVVAT KQSRAQRQEL GVNLYEVQQH 130 140 150 160 170 180 LVHLQKLLEK SHDRHAMASS ERRQKEEELQ AARALYTKTC AAANEERKKL AALQTEMENL 190 200 210 220 230 240 ALHLFYMQNI DQDMRDDIRV MTQVVKKAET ERIRAEIEKK KQDLYVDQLT TRAQQLEEDI 250 260 270 280 290 300 ALFEAQYLAQ AEDTRILRKA VSEACTEIDA ISVEKRRIMQ QWASSLVGMK HRDEAHRAVL 310 320 330 340 350 360 EALRGCQHQA KSTDGEIEAY KKSIMKEEEK NEKLASILNR TETEATLLQK LTTQCLTKQV 370 380 390 400 410 420 ALQSQFNTYR LTLQDTEDAL SQDQLEQMIL TEELQAIRQA IQGELELRRK TDAAIREKLQ 430 440 450 460 470 480 EHMTSNKTTK YFNQLILRLQ KEKTNMMTHL SKINGDIAQT TLDITHTSSR LDAHQKTLVE 490 500 510 520 530 540 LDQDVKKVNE LITNSQSEIS RRTILIERKQ GLINFLNKQL ERMVSELGGE EVGPLELEIK 550 560 570 580 590 600 RLSKLIDEHD GKAVQAQVTW LRLQQEMVKV TQEQEEQLAS LDASKKELHI MEQKKLRVES 610 620 630 640 650 660 KIEQEKKEQK EIEHHMKDLD NDLKKLNMLM NKNRCSSEEL EQNNRVTENE FVRSLKASER 670 680 690 700 710 720 ETIKMQDKLN QLSEEKATLL NQLVEAEHQI MLWEKKIQLA KEMRSSVDSE IGQTEIRAMK 730 740 750 760 770 780 GEIHRMKVRL GQLLKQQEKM IRAMELAVAR RETVTTQAEG QRKMDRKALT RTDFHHKQLE 790 800 810 820 830 840 LRRKIRDVRK ATDECTKTVL ELEETQRNVS SSLLEKQEKL SVIQADFDTL EADLTRLGAL 850 860 870 880 890 900 KRQNLSEIVA LQTRLKHLQA VKEGRYVFLF RSKQSLVLER QRLDKRLALI ATILDRVRDE 910 920 YPQFQEALHK VSQMIANKLE SPGPS
	Isoform 4 [UniParc]. Checksum: 0F0FD772989FB7C8	FASTA	579	64,007
	10 20 30 40 50 60 MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST EHPEEVTTQA 70 80 90 100 110 120 EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET SSPEGQISAA DTTYPYFSPP 130 140 150 160 170 180 QELPGEEAYD SVSGEAGLQG FQQEATGPPE SRERRVTSPE PSHGVLGPSE QMGQVTSGPA 190 200 210 220 230 240 VGRLTGSTEE PQGQVLPMGV QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD 250 260 270 280 290 300 LPVFQDQIQQ PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN 310 320 330 340 350 360 RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD RHAMASSERR 370 380 390 400 410 420 QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH LFYMQNIDQD MRDDIRVMTQ 430 440 450 460 470 480 VVKKAETERI RAEIEKKKQD LYVDQLTTRA QQLEEDIALF EAQYLAQAED TRILRKAVSE 490 500 510 520 530 540 ACTEIDAISV EKRRIMQQWA SSLVGMKHRD EAHRAVLEAL SVSLERFPSQ NINTARSRLS 550 560 570 TTWHSAGILL RGSFLPGASR AFASVCYGGA AVDNRIREC
	Isoform 5 [UniParc]. Checksum: 194B85FFFF78D73C	FASTA	478	52,263
	10 20 30 40 50 60 MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST EHPEEVTTQA 70 80 90 100 110 120 EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET SSPEGQISAA DTTYPYFSPP 130 140 150 160 170 180 QELPGEEAYD SVSGEAGLQG FQQEATGPPE SRERRVTSPE PSHGVLGPSE QMGQVTSGPA 190 200 210 220 230 240 VGRLTGSTEE PQGQVLPMGV QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD 250 260 270 280 290 300 LPVFQDQIQQ PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN 310 320 330 340 350 360 RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD RHAMASSERR 370 380 390 400 410 420 QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH LFYMQNIDQD MRDDIRVMTQ 430 440 450 460 470 VVKKAETERI RAEIEKKKQG VGDTGAAFIP KTTQGDQVSG RGKKKPGTVV ARVSPAEL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O. DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Brain.
[2]	"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 4). Tissue: Hepatoma.
[3]	"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage." Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C. Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]	"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 2 AND 5). Tissue: Prostate and Testis.
[6]	"The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation." Becker-Heck A., Zohn I.E., Okabe N., Pollock A., Lenhart K.B., Sullivan-Brown J., McSheene J., Loges N.T., Olbrich H., Haeffner K., Fliegauf M., Horvath J., Reinhardt R., Nielsen K.G., Marthin J.K., Baktai G., Anderson K.V., Geisler R. , Niswander L., Omran H., Burdine R.D. Nat. Genet. 43:79-84(2011) [PubMed] [Europe PMC] [Abstract] Cited for: FUNCTION, INVOLVEMENT IN CILD15.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AB046860 mRNA. Translation: BAB13466.1. Different initiation. AK000760 mRNA. Translation: BAA91365.1. AC087741 Genomic DNA. No translation available. AC116025 Genomic DNA. No translation available. CH471099 Genomic DNA. Translation: EAW89578.1. CH471099 Genomic DNA. Translation: EAW89579.1. BC035251 mRNA. Translation: AAH35251.1. BC058288 mRNA. Translation: AAH58288.1.
IPI	IPI00017358. IPI00288939. IPI00447328. IPI00642159. IPI00867553.
RefSeq	NP_001230271.1. NM_001243342.1. NP_060420.2. NM_017950.3.
UniGene	Hs.202542.
3D structure databases
ProteinModelPortal	Q4G0X9.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000380679.
PTM databases
PhosphoSite	Q4G0X9.
Polymorphism databases
DMDM	158706471.
Proteomic databases
PaxDb	Q4G0X9.
PRIDE	Q4G0X9.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000269318; ENSP00000269318; ENSG00000141519. ENST00000374876; ENSP00000364010; ENSG00000141519. ENST00000397545; ENSP00000380679; ENSG00000141519.
GeneID	55036.
KEGG	hsa:55036.
UCSC	uc002jxm.4. human. uc010dht.3. human. uc010wub.2. human.
Organism-specific databases
CTD	55036.
GeneCards	GC17P078010.
H-InvDB	HIX0014236.
HGNC	HGNC:26090. CCDC40.
HPA	HPA022974.
MIM	613799. gene. 613808. phenotype.
neXtProt	NX_Q4G0X9.
Orphanet	244. Primary ciliary dyskinesia.
PharmGKB	PA142672195.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG138528.
HOVERGEN	HBG095564.
InParanoid	Q4G0X9.
OMA	EIHRMKV.
OrthoDB	EOG4CG07H.
Gene expression databases
ArrayExpress	Q4G0X9.
Bgee	Q4G0X9.
CleanEx	HS_CCDC40.
Genevestigator	Q4G0X9.
Family and domain databases
InterPro	IPR013956. E3_ubiquit_lig_BRE1. [Graphical view]
Pfam	PF08647. BRE1. 1 hit. [Graphical view]
ProtoNet	Search...
Other
GenomeRNAi	55036.
NextBio	58467.
SOURCE	Search...

Entry information

Entry name

CCD40_HUMAN

Accession

Primary (citable) accession number: Q4G0X9
Secondary accession number(s): A8MTD2 , C9JTI9, C9JTJ0, C9JXW1, Q6PE47, Q9HCD2, Q9NWL5

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 2, 2007
Last sequence update:	October 2, 2007
Last modified:	May 1, 2013
This is version 70 of the entry and version 2 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.