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Q68D86 (C102B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 78. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 102B
Gene names
Name:CCDC102B
Synonyms:C18orf14
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length513 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Sequence caution

The sequence AAH56269.1 differs from that shown. Reason: wrong intron-exon boundaries.

The sequence BAB15706.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAD38721.2 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

The sequence CAD38721.2 differs from that shown. Reason: Frameshift at position 200.

Ontologies

Keywords
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainCoiled coil
   Technical termComplete 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: 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:
     479-483: LDDSL → VLLYE
     484-513: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 513513Coiled-coil domain-containing protein 102B
PRO_0000079308

Regions

Coiled coil72 – 14271 Potential
Coiled coil268 – 33770 Potential
Coiled coil363 – 513151 Potential

Natural variations

Alternative sequence479 – 4835LDDSL → VLLYE in isoform 2.
VSP_014688
Alternative sequence484 – 51330Missing in isoform 2.
VSP_014689
Natural variant1531K → N. Ref.1
Corresponds to variant rs572020 [ dbSNP | Ensembl ].
VAR_047331
Natural variant2981K → R. Ref.1
Corresponds to variant rs2187094 [ dbSNP | Ensembl ].
VAR_047332
Natural variant3461C → F.
Corresponds to variant rs745894 [ dbSNP | Ensembl ].
VAR_022893
Natural variant3701E → G.
Corresponds to variant rs34102373 [ dbSNP | Ensembl ].
VAR_047333
Natural variant4251N → K.
Corresponds to variant rs17080065 [ dbSNP | Ensembl ].
VAR_047334
Natural variant4291A → P.
Corresponds to variant rs9963788 [ dbSNP | Ensembl ].
VAR_022894

Experimental info

Sequence conflict1311M → T in CAH18334. Ref.1
Sequence conflict3821R → G in CAH18334. Ref.1
Sequence conflict4691K → R in CAH18334. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 25, 2008. Version 4.
Checksum: 450D36A80D6D88C8

FASTA51360,448
        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 

« Hide

Isoform 2 [UniParc].

Checksum: 58CB338DE6B55098
Show »

FASTA48356,720

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] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 189-513 (ISOFORM 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. expand/collapse author list , 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] [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] (ISOFORM 1).
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. expand/collapse author list , 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] 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. Sequence problems.
AC022035 Genomic DNA. No translation available.
AC096708 Genomic DNA. No translation available.
AC011087 Genomic DNA. No translation available.
BC056269 mRNA. Translation: AAH56269.1. Sequence problems.
AK027247 mRNA. Translation: BAB15706.1. Different initiation.
CCDSCCDS11996.2. [Q68D86-1]
RefSeqNP_079057.2. NM_024781.2.
XP_005266821.1. XM_005266764.1. [Q68D86-1]
XP_005266822.1. XM_005266765.1. [Q68D86-1]
XP_006722605.1. XM_006722542.1. [Q68D86-1]
XP_006722606.1. XM_006722543.1. [Q68D86-1]
XP_006722607.1. XM_006722544.1. [Q68D86-1]
UniGeneHs.280781.

3D structure databases

ProteinModelPortalQ68D86.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122930. 1 interaction.

PTM databases

PhosphoSiteQ68D86.

Polymorphism databases

DMDM215274243.

Proteomic databases

PaxDbQ68D86.
PRIDEQ68D86.

Protocols and materials databases

DNASU79839.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000319445; ENSP00000316237; ENSG00000150636. [Q68D86-1]
ENST00000360242; ENSP00000353377; ENSG00000150636. [Q68D86-1]
ENST00000584156; ENSP00000463111; ENSG00000150636. [Q68D86-2]
GeneID79839.
KEGGhsa:79839.
UCSCuc002lki.2. human. [Q68D86-1]

Organism-specific databases

CTD79839.
GeneCardsGC18P066382.
HGNCHGNC:26295. CCDC102B.
HPAHPA040623.
neXtProtNX_Q68D86.
PharmGKBPA134948675.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG131045.
HOGENOMHOG000008304.
HOVERGENHBG080941.
InParanoidQ68D86.
OMAQSHAAHN.
PhylomeDBQ68D86.
TreeFamTF320856.

Gene expression databases

ArrayExpressQ68D86.
BgeeQ68D86.
CleanExHS_CCDC102B.
GenevestigatorQ68D86.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi79839.
NextBio69510.
PROQ68D86.

Entry information

Entry nameC102B_HUMAN
AccessionPrimary (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: July 9, 2014
This is version 78 of the entry and version 4 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 18

Human chromosome 18: entries, gene names and cross-references to MIM