Q68D86 (C102B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 102B

Gene names

Name:	CCDC102B
Synonyms:	C18orf14

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	513 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Sequence caution

The sequence BAB15706.1 differs from that shown. Reason: Erroneous initiation.

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 3 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q68D86-1)

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.

Note: No experimental confirmation available.

Isoform 2 (identifier: Q68D86-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-216: Missing.
     479-483: LDDSL → VLLYE
     484-513: Missing.

Note: No experimental confirmation available.

Isoform 3 (identifier: Q68D86-3)

The sequence of this isoform differs from the canonical sequence as follows:
     286-311: ERLESALSLWKWKYEELKESKPKNVK → MEGKRNAHSFGKRNRETGVGFVSVEV
     422-424: ELL → DVK
     425-513: Missing.

Note: No experimental confirmation available.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 513	513	Coiled-coil domain-containing protein 102B		PRO_0000079308
Regions
	Coiled coil	72 – 142	71	Potential
	Coiled coil	268 – 337	70	Potential
	Coiled coil	363 – 513	151	Potential
Natural variations
	Alternative sequence	1 – 216	216	Missing in isoform 2.		VSP_035724
	Alternative sequence	286 – 311	26	ERLES…PKNVK → MEGKRNAHSFGKRNRETGVG FVSVEV in isoform 3.		VSP_014685
	Alternative sequence	422 – 424	3	ELL → DVK in isoform 3.		VSP_014686
	Alternative sequence	425 – 513	89	Missing in isoform 3.		VSP_014687
	Alternative sequence	479 – 483	5	LDDSL → VLLYE in isoform 2.		VSP_014688
	Alternative sequence	484 – 513	30	Missing in isoform 2.		VSP_014689
	Natural variant	153	1	K → N. Ref.1 Corresponds to variant rs572020 [ dbSNP | Ensembl ].		VAR_047331
	Natural variant	298	1	K → R. Ref.1 Corresponds to variant rs2187094 [ dbSNP | Ensembl ].		VAR_047332
	Natural variant	346	1	C → F. Corresponds to variant rs745894 [ dbSNP | Ensembl ].		VAR_022893
	Natural variant	370	1	E → G. Corresponds to variant rs34102373 [ dbSNP | Ensembl ].		VAR_047333
	Natural variant	425	1	N → K. Corresponds to variant rs17080065 [ dbSNP | Ensembl ].		VAR_047334
	Natural variant	429	1	A → P. Corresponds to variant rs9963788 [ dbSNP | Ensembl ].		VAR_022894
Experimental info
	Sequence conflict	131	1	M → T in CAH18334. Ref.1
	Sequence conflict	382	1	R → G in CAH18334. Ref.1
	Sequence conflict	469	1	K → R in CAH18334. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified November 25, 2008. Version 4. Checksum: 450D36A80D6D88C8	FASTA	513	60,448
	10 20 30 40 50 60 MNLDSIHRLI EETQIFQMQQ SSIKSRGDMV APASPPRDTC NTCFPLHGLQ SHAAHNFCAH 70 80 90 100 110 120 SYNTNKWDIC EELRLRELEE VKARAAQMEK TMRWWSDCTA NWREKWSKVR AERNSAREEG 130 140 150 160 170 180 RQLRIKLEMA MKELSTLKKK QSLPPQKEAL EAKVTQDLKL PGFVEESCEH TDQFQLSSQM 190 200 210 220 230 240 HESIREYLVK RQFSTKEDTN NKEQGVVIDS LKLSEEMKPN LDGVDLFNNG GSGNGETKTG 250 260 270 280 290 300 LRLKAINLPL ENEVTEISAL QVHLDEFQKI LWKEREMRTA LEKEIERLES ALSLWKWKYE 310 320 330 340 350 360 ELKESKPKNV KEFDILLGQH NDEMQELSGN IKEESKSQNS KDRVICELRA ELERLQAENT 370 380 390 400 410 420 SEWDKREILE REKQGLEREN RRLKIQVKEM EELLDKKNRL SANSQSPDFK MSQIDLQEKN 430 440 450 460 470 480 QELLNLQHAY YKLNRQYQAN IAELTHANNR VDQNEAEVKK LRLRVEELKQ GLNQKEDELD 490 500 510 DSLNQIRKLQ RSLDEEKERN ENLETELRHL QNW
	Isoform 2 [UniParc]. Checksum: AB0C5323B6AB0BA4	FASTA	267	31,514
	10 20 30 40 50 60 MKPNLDGVDL FNNGGSGNGE TKTGLRLKAI NLPLENEVTE ISALQVHLDE FQKILWKERE 70 80 90 100 110 120 MRTALEKEIE RLESALSLWK WKYEELKESK PKNVKEFDIL LGQHNDEMQE LSGNIKEESK 130 140 150 160 170 180 SQNSKDRVIC ELRAELERLQ AENTSEWDKR EILEREKQGL ERENRRLKIQ VKEMEELLDK 190 200 210 220 230 240 KNRLSANSQS PDFKMSQIDL QEKNQELLNL QHAYYKLNRQ YQANIAELTH ANNRVDQNEA 250 260 EVKKLRLRVE ELKQGLNQKE DEVLLYE
	Isoform 3 [UniParc]. Checksum: 084F53100C4BCAFF	FASTA	424	49,315
	10 20 30 40 50 60 MNLDSIHRLI EETQIFQMQQ SSIKSRGDMV APASPPRDTC NTCFPLHGLQ SHAAHNFCAH 70 80 90 100 110 120 SYNTNKWDIC EELRLRELEE VKARAAQMEK TMRWWSDCTA NWREKWSKVR AERNSAREEG 130 140 150 160 170 180 RQLRIKLEMA MKELSTLKKK QSLPPQKEAL EAKVTQDLKL PGFVEESCEH TDQFQLSSQM 190 200 210 220 230 240 HESIREYLVK RQFSTKEDTN NKEQGVVIDS LKLSEEMKPN LDGVDLFNNG GSGNGETKTG 250 260 270 280 290 300 LRLKAINLPL ENEVTEISAL QVHLDEFQKI LWKEREMRTA LEKEIMEGKR NAHSFGKRNR 310 320 330 340 350 360 ETGVGFVSVE VEFDILLGQH NDEMQELSGN IKEESKSQNS KDRVICELRA ELERLQAENT 370 380 390 400 410 420 SEWDKREILE REKQGLEREN RRLKIQVKEM EELLDKKNRL SANSQSPDFK MSQIDLQEKN QDVK

References

[1]	"The full-ORF clone resource of the German cDNA consortium." Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I. BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANTS ASN-153 AND ARG-298. Tissue: Salivary gland and Testis.
[2]	"DNA sequence and analysis of human chromosome 18." Nusbaum C., Zody M.C., Borowsky M.L., Kamal M., Kodira C.D., Taylor T.D., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Abouelleil A., Allen N.R., Anderson S., Bloom T., Bugalter B., Butler J. , Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall J.L., Norman C.H., Itoh T., Jaffe D.B., Kuroki Y., Lehoczky J., Lui A., Macdonald P., Mauceli E., Mikkelsen T.S., Naylor J.W., Nicol R., Nguyen C., Noguchi H., O'Leary S.B., Piqani B., Smith C.L., Talamas J.A., Topham K., Totoki Y., Toyoda A., Wain H.M., Young S.K., Zeng Q., Zimmer A.R., Fujiyama A., Hattori M., Birren B.W., Sakaki Y., Lander E.S. Nature 437:551-555(2005) [PubMed: 16177791] [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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Testis.
[4]	"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: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 199-513 (ISOFORM 1). Tissue: Lung.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	CR749520 mRNA. Translation: CAH18334.2. AL833863 mRNA. Translation: CAD38721.2. AC022035 Genomic DNA. No translation available. AC096708 Genomic DNA. No translation available. AC011087 Genomic DNA. No translation available. BC056269 mRNA. Translation: AAH56269.1. AK027247 mRNA. Translation: BAB15706.1. Different initiation.
IPI	IPI00015595. IPI00385048. IPI00744298.
RefSeq	NP_079057.2. NM_024781.2.
UniGene	Hs.280781.
3D structure databases
ProteinModelPortal	Q68D86.
SMR	Q68D86. Positions 452-510.
ModBase	Search...
Protein-protein interaction databases
STRING	Q68D86.
Polymorphism databases
DMDM	215274243.
Proteomic databases
PRIDE	Q68D86.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000319445; ENSP00000316237; ENSG00000150636. ENST00000360242; ENSP00000353377; ENSG00000150636.
GeneID	79839.
KEGG	hsa:79839.
UCSC	uc002lkj.1. human.
Organism-specific databases
CTD	79839.
GeneCards	GC18P066382.
HGNC	HGNC:26295. CCDC102B.
HPA	HPA040623.
neXtProt	NX_Q68D86.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000018045.
HOGENOM	HBG315761.
HOVERGEN	HBG080941.
InParanoid	Q68D86.
OMA	QSHAAHN.
OrthoDB	EOG4K0QN9.
PhylomeDB	Q68D86.
Gene expression databases
ArrayExpress	Q68D86.
Bgee	Q68D86.
CleanEx	HS_CCDC102B.
Genevestigator	Q68D86.
GermOnline	ENSG00000150636. Homo sapiens.
Family and domain databases
ProtoNet	Search...
Other
NextBio	69510.

Entry information

Entry name

C102B_HUMAN

Accession

Primary (citable) accession number: Q68D86
Secondary accession number(s): Q7Z467, Q8NDK7, Q9H5C1

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2005
Last sequence update:	November 25, 2008
Last modified:	January 25, 2012
This is version 59 of the entry and version 4 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.