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Q68D86

- C102B_HUMAN

UniProt

Q68D86 - C102B_HUMAN

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Protein

Coiled-coil domain-containing protein 102B

Gene

CCDC102B

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 2 out of 5- Experimental evidence at transcript leveli

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 102B
Gene namesi
Name:CCDC102B
Synonyms:C18orf14
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 18

Organism-specific databases

HGNCiHGNC:26295. CCDC102B.

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134948675.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 513513Coiled-coil domain-containing protein 102BPRO_0000079308Add
BLAST

Proteomic databases

PaxDbiQ68D86.
PRIDEiQ68D86.

PTM databases

PhosphoSiteiQ68D86.

Expressioni

Gene expression databases

BgeeiQ68D86.
CleanExiHS_CCDC102B.
ExpressionAtlasiQ68D86. baseline and differential.
GenevestigatoriQ68D86.

Organism-specific databases

HPAiHPA040623.

Interactioni

Protein-protein interaction databases

BioGridi122930. 3 interactions.

Structurei

3D structure databases

ProteinModelPortaliQ68D86.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili72 – 14271Sequence AnalysisAdd
BLAST
Coiled coili268 – 33770Sequence AnalysisAdd
BLAST
Coiled coili363 – 513151Sequence AnalysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG131045.
GeneTreeiENSGT00730000110960.
HOGENOMiHOG000008304.
HOVERGENiHBG080941.
InParanoidiQ68D86.
OMAiQSHAAHN.
PhylomeDBiQ68D86.
TreeFamiTF320856.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q68D86-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MNLDSIHRLI EETQIFQMQQ SSIKSRGDMV APASPPRDTC NTCFPLHGLQ
60 70 80 90 100
SHAAHNFCAH SYNTNKWDIC EELRLRELEE VKARAAQMEK TMRWWSDCTA
110 120 130 140 150
NWREKWSKVR AERNSAREEG RQLRIKLEMA MKELSTLKKK QSLPPQKEAL
160 170 180 190 200
EAKVTQDLKL PGFVEESCEH TDQFQLSSQM HESIREYLVK RQFSTKEDTN
210 220 230 240 250
NKEQGVVIDS LKLSEEMKPN LDGVDLFNNG GSGNGETKTG LRLKAINLPL
260 270 280 290 300
ENEVTEISAL QVHLDEFQKI LWKEREMRTA LEKEIERLES ALSLWKWKYE
310 320 330 340 350
ELKESKPKNV KEFDILLGQH NDEMQELSGN IKEESKSQNS KDRVICELRA
360 370 380 390 400
ELERLQAENT SEWDKREILE REKQGLEREN RRLKIQVKEM EELLDKKNRL
410 420 430 440 450
SANSQSPDFK MSQIDLQEKN QELLNLQHAY YKLNRQYQAN IAELTHANNR
460 470 480 490 500
VDQNEAEVKK LRLRVEELKQ GLNQKEDELD DSLNQIRKLQ RSLDEEKERN
510
ENLETELRHL QNW

Note: No experimental confirmation available.

Length:513
Mass (Da):60,448
Last modified:November 25, 2008 - v4
Checksum:i450D36A80D6D88C8
GO
Isoform 2 (identifier: Q68D86-2) [UniParc]FASTAAdd to Basket

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

Note: No experimental confirmation available.

Show »
Length:483
Mass (Da):56,720
Checksum:i58CB338DE6B55098
GO

Sequence cautioni

The sequence AAH56269.1 differs from that shown. Reason: wrong intron-exon boundaries.
The sequence CAD38721.2 differs from that shown. Reason: Frameshift at position 200.
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.

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti131 – 1311M → T in CAH18334. (PubMed:17974005)Curated
Sequence conflicti382 – 3821R → G in CAH18334. (PubMed:17974005)Curated
Sequence conflicti469 – 4691K → R in CAH18334. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti153 – 1531K → N.1 Publication
Corresponds to variant rs572020 [ dbSNP | Ensembl ].
VAR_047331
Natural varianti298 – 2981K → R.1 Publication
Corresponds to variant rs2187094 [ dbSNP | Ensembl ].
VAR_047332
Natural varianti346 – 3461C → F.
Corresponds to variant rs745894 [ dbSNP | Ensembl ].
VAR_022893
Natural varianti370 – 3701E → G.
Corresponds to variant rs34102373 [ dbSNP | Ensembl ].
VAR_047333
Natural varianti425 – 4251N → K.
Corresponds to variant rs17080065 [ dbSNP | Ensembl ].
VAR_047334
Natural varianti429 – 4291A → P.
Corresponds to variant rs9963788 [ dbSNP | Ensembl ].
VAR_022894

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei479 – 4835LDDSL → VLLYE in isoform 2. 1 PublicationVSP_014688
Alternative sequencei484 – 51330Missing in isoform 2. 1 PublicationVSP_014689Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS11996.2. [Q68D86-1]
RefSeqiNP_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]
UniGeneiHs.280781.

Genome annotation databases

EnsembliENST00000319445; ENSP00000316237; ENSG00000150636. [Q68D86-1]
ENST00000358653; ENSP00000351479; ENSG00000150636.
ENST00000360242; ENSP00000353377; ENSG00000150636. [Q68D86-1]
ENST00000584156; ENSP00000463111; ENSG00000150636. [Q68D86-2]
GeneIDi79839.
KEGGihsa:79839.
UCSCiuc002lki.2. human. [Q68D86-1]

Polymorphism databases

DMDMi215274243.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSi CCDS11996.2. [Q68D86-1 ]
RefSeqi NP_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 ]
UniGenei Hs.280781.

3D structure databases

ProteinModelPortali Q68D86.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 122930. 3 interactions.

PTM databases

PhosphoSitei Q68D86.

Polymorphism databases

DMDMi 215274243.

Proteomic databases

PaxDbi Q68D86.
PRIDEi Q68D86.

Protocols and materials databases

DNASUi 79839.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000319445 ; ENSP00000316237 ; ENSG00000150636 . [Q68D86-1 ]
ENST00000358653 ; ENSP00000351479 ; ENSG00000150636 .
ENST00000360242 ; ENSP00000353377 ; ENSG00000150636 . [Q68D86-1 ]
ENST00000584156 ; ENSP00000463111 ; ENSG00000150636 . [Q68D86-2 ]
GeneIDi 79839.
KEGGi hsa:79839.
UCSCi uc002lki.2. human. [Q68D86-1 ]

Organism-specific databases

CTDi 79839.
GeneCardsi GC18P066382.
HGNCi HGNC:26295. CCDC102B.
HPAi HPA040623.
neXtProti NX_Q68D86.
PharmGKBi PA134948675.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG131045.
GeneTreei ENSGT00730000110960.
HOGENOMi HOG000008304.
HOVERGENi HBG080941.
InParanoidi Q68D86.
OMAi QSHAAHN.
PhylomeDBi Q68D86.
TreeFami TF320856.

Miscellaneous databases

GenomeRNAii 79839.
NextBioi 69510.
PROi Q68D86.

Gene expression databases

Bgeei Q68D86.
CleanExi HS_CCDC102B.
ExpressionAtlasi Q68D86. baseline and differential.
Genevestigatori Q68D86.

Family and domain databases

ProtoNeti Search...

Publicationsi

  1. 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. 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.
    , 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.

Entry informationi

Entry nameiC102B_HUMAN
AccessioniPrimary (citable) accession number: Q68D86
Secondary accession number(s): Q7Z467, Q8NDK7, Q9H5C1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 19, 2005
Last sequence update: November 25, 2008
Last modified: October 29, 2014
This is version 80 of the entry and version 4 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 18
    Human chromosome 18: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations

External Data

Dasty 3