CCDC88B (coiled-coil and HOOK domain protein 88B)

Gene

• Entrez ID: 283234
• Gene name: Coiled-coil and HOOK domain protein 88B
• Gene symbol: CCDC88B
• Synonyms: BRLZ, CCDC88, HKRP3, gipie
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: This gene encodes a member of the hook-related protein family. Members of this family are characterized by an N-terminal potential microtubule binding domain, a central coiled-coiled and a C-terminal Hook-related domain. The encoded protein may be involve

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019981	hsa-miR-375	Microarray	20215506
MIRT870126	hsa-miR-1207-5p	CLIP-seq
MIRT870127	hsa-miR-1909	CLIP-seq
MIRT870128	hsa-miR-1976	CLIP-seq
MIRT870129	hsa-miR-2117	CLIP-seq
MIRT870130	hsa-miR-296-5p	CLIP-seq
MIRT870131	hsa-miR-4707-5p	CLIP-seq
MIRT870132	hsa-miR-4753-3p	CLIP-seq
MIRT870133	hsa-miR-4763-3p	CLIP-seq
MIRT2195113	hsa-miR-1224-3p	CLIP-seq
MIRT2195114	hsa-miR-1260	CLIP-seq
MIRT2195115	hsa-miR-1260b	CLIP-seq
MIRT2195116	hsa-miR-1280	CLIP-seq
MIRT2195117	hsa-miR-188-3p	CLIP-seq
MIRT2195118	hsa-miR-3156-3p	CLIP-seq
MIRT2195119	hsa-miR-3199	CLIP-seq
MIRT2195120	hsa-miR-512-5p	CLIP-seq
MIRT2195121	hsa-miR-619	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001819	Process	Positive regulation of cytokine production	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005813	Component	Centrosome	IBA	21873635
GO:0008017	Function	Microtubule binding	IBA	21873635
GO:0016020	Component	Membrane	HDA	19946888
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IBA	21873635
GO:0031122	Process	Cytoplasmic microtubule organization	IBA	21873635
GO:0042102	Process	Positive regulation of T cell proliferation	ISS
GO:0042832	Process	Defense response to protozoan	IEA
GO:0050870	Process	Positive regulation of T cell activation	ISS
GO:0051959	Function	Dynein light intermediate chain binding	IBA	21873635

Other IDs

• MIM: 611205
• HGNC: 26757
• e!Ensembl: ENSG00000168071

Protein

• UniProt ID: A6NC98
• Protein name: Coiled-coil domain-containing protein 88B (Brain leucine zipper domain-containing protein) (Gipie) (Hook-related protein 3) (HkRP3)
• Protein function: Acts as a positive regulator of T-cell maturation and inflammatory function. Required for several functions of T-cells, in both the CD4(+) and the CD8(+) compartments and this includes expression of cell surface markers of activation, proliferat
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF19047	HOOK_N	53 → 181	HOOK domain	Domain

• Sequence:

  MEGGKGPRLRDFLSGSLATWALGLAGLVGEAEDSEGEEEEEEEEPPLWLEKRFLRLSDGA
  LLLRVLGIIAPSSRGGPRMLRGLDGPAAWRVWNLNHLWGRLRDFYQEELQLLILSPPPDL
  QTLGFDPLSEEAVEQLEGVLRLLLGASVQCEHRELFIRHIQGLSLEVQSELAAAIQEVTQ
  PGAGVVLALSGPDPGELAPAELEMLSRSLMGTLSKLARERDLGAQRLAELLLEREPLCLR
  PEAPSRAPAEGPSHHLALQLANAKAQLRRLRQELEEKAELLLDSQAEVQGLEAEIRRLRQ
  EAQALSGQAKRAELYREEAEALRERAGRLPRLQEELRRCRERLQAAEAYKSQLEEERVLS
  GVLEASKALLEEQLEAARERCARLHETQRENLLLRTRLGEAHAELDSLRHQVDQLAEENV
  ELELELQRSLEPPPGSPGEAPLAGAAPSLQDEVREAEAGRLRTLERENRELRGLLQVLQG
  QPGGQHPLLEAPREDPVLPVLEEAPQTPVAFDHSPQGLVQKARDGGPQALDLAPPALDSV
  LEASAECPQAPDSDPQEAESPLQAAAMDPQASDWSPQESGSPVETQESPEKAGRRSSLQS
  PASVAPPQGPGTKIQAPQLLGGETEGREAPQGELVPEAWGLRQEGPEHKPGPSEPSSVQL
  EEQEGPNQGLDLATGQAEAREHDQRLEGTVRDPAWQKPQQKSEGALEVQVWEGPIPGESL
  ASGVAEQEALREEVAQLRRKAEALGDELEAQARKLEAQNTEAARLSKELAQARRAEAEAH
  REAEAQAWEQARLREAVEAAGQELESASQEREALVEALAAAGRERRQWEREGSRLRAQSE
  AAEERMQVLESEGRQHLEEAERERREKEALQAELEKAVVRGKELGDRLEHLQRELEQAAL
  ERQEFLREKESQHQRYQGLEQRLEAELQAAATSKEEALMELKTRALQLEEELFQLRQGPA
  GLGPKKRAEPQLVETQNVRLIEVERSNAMLVAEKAALQGQLQHLEGQLGSLQGRAQELLL
  QSQRAQEHSSRLQAEKSVLEIQGQELHRKLEVLEEEVRAARQSQEETRGQQQALLRDHKA
  LAQLQRRQEAELEGLLVRHRDLKANMRALELAHRELQGRHEQLQAQRASVEAQEVALLAE
  RERLMQDGHRQRGLEEELRRLQSEHDRAQMLLAELSRERGELQGERGELRGRLARLELER
  AQLEMQSQQLRESNQQLDLSACRLTTQCELLTQLRSAQEEENRQLLAEVQALSRENRELL
  ERSLESRDHLHREQREYLDQLNALRREKQKLVEKIMDQYRVLEPVPLPRTKKGSWLADKV
  KRLMRPRREGGPPGGLRLGADGAGSTESLGGPPETELPEGREADGTGSPSPAPMRRAQSS
  LCLRDETLAGGQRRKLSSRFPVGRSSESFSPGDTPRQRFRQRHPGPLGAPVSHSKGPGVG
  WENSAETLQEHETDANREGPEVQEPEKRPLTPSLSQ

• Sequence length: 1476

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autoimmune diseases	Autoimmune Diseases, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	rs41285370, rs869025224	30595370
Basal cell neoplasm	Basal Cell Neoplasm, Basal Cell Cancer	rs587776578, rs587776579, rs2117956624, rs2118419579, rs2118365442, rs2118041703, rs2136689212, rs2118336503, rs1587692888, rs267606984, rs878853849, rs1554695110, rs1064793921, rs1588605348, rs1588568813	31174203
Carcinoma	Basal cell carcinoma	rs121912654, rs555607708, rs786202962, rs1564055259	31174203
Leprosy	Leprosy	rs121917864, rs2239704	25642632

Unknown
Disease name	Disease term	dbSNP ID	References
Cholangitis	Cholangitis, Sclerosing		27992413
Eczema	Eczema		30595370
Biliary cirrhosis	Primary biliary cirrhosis		26394269