CCZ1B (CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated) - Rat Genome Database

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Gene: CCZ1B (CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated) Homo sapiens
Analyze
Symbol: CCZ1B
Name: CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated
RGD ID: 1351383
HGNC Page HGNC:21717
Description: Enables guanyl-nucleotide exchange factor activity. Predicted to be involved in vesicle-mediated transport. Located in intracellular membrane-bounded organelle. Part of Mon1-Ccz1 complex.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: C7orf28A; C7orf28B; CCZ1; CCZ1 homolog, vacuolar protein trafficking and biogenesis associated B; CCZ1 vacuolar protein trafficking and biogenesis associated B; CCZ1 vacuolar protein trafficking and biogenesis associated homolog B; DKFZp586I1023; FLJ60592; H_DJ1163J12.2; H_NH0577018.2; hypothetical protein LOC221960; MGC19819; vacuolar fusion protein CCZ1 homolog B; vacuolar fusion protein CCZ1 homolog-like
RGD Orthologs
Bonobo
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3876,798,937 - 6,826,275 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl76,794,134 - 6,826,770 (-)EnsemblGRCh38hg38GRCh38
GRCh3776,838,568 - 6,865,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3676,805,097 - 6,832,386 (-)NCBINCBI36Build 36hg18NCBI36
Build 3476,611,811 - 6,639,101NCBI
Celera75,897,907 - 5,900,900 (+)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef76,705,600 - 6,714,509 (-)NCBIHuRef
CHM1_176,838,187 - 6,865,549 (-)NCBICHM1_1
T2T-CHM13v2.076,918,130 - 6,945,461 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v276,885,604 - 6,912,964 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:10810093   PMID:12853948   PMID:14702039   PMID:15342556   PMID:15489334   PMID:20467437   PMID:21832049   PMID:21873635   PMID:23022380   PMID:23333304   PMID:26638075   PMID:33226137  
PMID:34432599   PMID:34672954   PMID:35256949   PMID:35271311   PMID:35831314   PMID:36215168  


Genomics

Comparative Map Data
CCZ1B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3876,798,937 - 6,826,275 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl76,794,134 - 6,826,770 (-)EnsemblGRCh38hg38GRCh38
GRCh3776,838,568 - 6,865,906 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 3676,805,097 - 6,832,386 (-)NCBINCBI36Build 36hg18NCBI36
Build 3476,611,811 - 6,639,101NCBI
Celera75,897,907 - 5,900,900 (+)NCBICelera
Cytogenetic Map7p22.1NCBI
HuRef76,705,600 - 6,714,509 (-)NCBIHuRef
CHM1_176,838,187 - 6,865,549 (-)NCBICHM1_1
T2T-CHM13v2.076,918,130 - 6,945,461 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v276,885,604 - 6,912,964 (-)NCBI
LOC100976634
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2610,838,868 - 10,865,922 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1759,163,575 - 59,190,630 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v076,589,572 - 6,617,072 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.176,940,976 - 6,962,961 (-)NCBIpanpan1.1PanPan1.1panPan2

Variants

.
Variants in CCZ1B
17 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1 copy number loss See cases [RCV000050923] Chr7:6106402..11012657 [GRCh38]
Chr7:6146033..11052284 [GRCh37]
Chr7:6112559..11018809 [NCBI36]
Chr7:7p22.1-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2		 pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3		 pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3 copy number gain See cases [RCV000515563] Chr7:2789546..9066894 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3		 pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3 copy number gain See cases [RCV000511909] Chr7:4839046..7110343 [GRCh37]
Chr7:7p22.1		 likely pathogenic
GRCh37/hg19 7p22.1-21.3(chr7:6829890-7516815)x3 copy number gain See cases [RCV000511769] Chr7:6829890..7516815 [GRCh37]
Chr7:7p22.1-21.3		 uncertain significance
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_198097.5(CCZ1B):c.20G>A (p.Gly7Glu) single nucleotide variant Inborn genetic diseases [RCV003297714] Chr7:6826178 [GRCh38]
Chr7:6865809 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:6774548-7196878)x1 copy number loss not provided [RCV000682842] Chr7:6774548..7196878 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2		 pathogenic
GRCh37/hg19 7p22.1-21.3(chr7:6579045-7639607)x3 copy number gain not provided [RCV000682880] Chr7:6579045..7639607 [GRCh37]
Chr7:7p22.1-21.3		 likely benign
GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3 copy number gain not provided [RCV000682900] Chr7:4388620..7302293 [GRCh37]
Chr7:7p22.2-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:6863889-7215822)x3 copy number gain not provided [RCV000746427] Chr7:6863889..7215822 [GRCh37]
Chr7:7p22.1		 benign
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.1-21.3(chr7:6864233-8137002)x3 copy number gain not provided [RCV001005905] Chr7:6864233..8137002 [GRCh37]
Chr7:7p22.1-21.3		 likely benign
GRCh37/hg19 7p22.1(chr7:6517699-7294602)x3 copy number gain not provided [RCV000846638] Chr7:6517699..7294602 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.622T>G (p.Ser208Ala) single nucleotide variant Inborn genetic diseases [RCV003239374] Chr7:6819842 [GRCh38]
Chr7:6859473 [GRCh37]
Chr7:7p22.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.1(chr7:6183858-7137555)x3 copy number gain not provided [RCV001259435] Chr7:6183858..7137555 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3 copy number gain See cases [RCV002292426] Chr7:43360..9649794 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1		 pathogenic
GRCh37/hg19 7p22.1(chr7:6615773-7080078)x3 copy number gain not provided [RCV002474730] Chr7:6615773..7080078 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.880G>A (p.Ala294Thr) single nucleotide variant Inborn genetic diseases [RCV002841623] Chr7:6812026 [GRCh38]
Chr7:6851657 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.484A>G (p.Lys162Glu) single nucleotide variant Inborn genetic diseases [RCV002691896] Chr7:6822319 [GRCh38]
Chr7:6861950 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.985G>A (p.Asp329Asn) single nucleotide variant Inborn genetic diseases [RCV002893353] Chr7:6806007 [GRCh38]
Chr7:6845638 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.254A>C (p.His85Pro) single nucleotide variant Inborn genetic diseases [RCV002826504] Chr7:6824513 [GRCh38]
Chr7:6864144 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.415C>T (p.Arg139Trp) single nucleotide variant Inborn genetic diseases [RCV002988296] Chr7:6823336 [GRCh38]
Chr7:6862967 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.464C>G (p.Ala155Gly) single nucleotide variant Inborn genetic diseases [RCV002964436] Chr7:6822339 [GRCh38]
Chr7:6861970 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.967G>A (p.Ala323Thr) single nucleotide variant Inborn genetic diseases [RCV002988917]|not provided [RCV003435935] Chr7:6806025 [GRCh38]
Chr7:6845656 [GRCh37]
Chr7:7p22.1		 likely benign|uncertain significance
NM_198097.5(CCZ1B):c.55C>G (p.Gln19Glu) single nucleotide variant Inborn genetic diseases [RCV002960162] Chr7:6826143 [GRCh38]
Chr7:6865774 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.368A>C (p.Glu123Ala) single nucleotide variant Inborn genetic diseases [RCV003202799] Chr7:6824111 [GRCh38]
Chr7:6863742 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.946G>A (p.Val316Ile) single nucleotide variant Inborn genetic diseases [RCV003192866] Chr7:6811960 [GRCh38]
Chr7:6851591 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.623C>G (p.Ser208Cys) single nucleotide variant Inborn genetic diseases [RCV003352101] Chr7:6819841 [GRCh38]
Chr7:6859472 [GRCh37]
Chr7:7p22.1		 uncertain significance
GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3 copy number gain not provided [RCV003484665] Chr7:43361..8890475 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
NM_198097.5(CCZ1B):c.18C>G (p.Ala6=) single nucleotide variant not provided [RCV003436649] Chr7:6826180 [GRCh38]
Chr7:6865811 [GRCh37]
Chr7:7p22.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3 copy number gain not provided [RCV001005891] Chr7:1648373..10627513 [GRCh37]
Chr7:7p22.3-21.3		 pathogenic
GRCh37/hg19 7p22.1-21.3(chr7:6536635-7639607)x3 copy number gain not provided [RCV001005904] Chr7:6536635..7639607 [GRCh37]
Chr7:7p22.1-21.3		 likely benign
NM_198097.5(CCZ1B):c.247T>A (p.Ser83Thr) single nucleotide variant Inborn genetic diseases [RCV003010758] Chr7:6824520 [GRCh38]
Chr7:6864151 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.989C>G (p.Ala330Gly) single nucleotide variant Inborn genetic diseases [RCV003214428] Chr7:6805055 [GRCh38]
Chr7:6844686 [GRCh37]
Chr7:7p22.1		 uncertain significance
NM_198097.5(CCZ1B):c.118C>G (p.Gln40Glu) single nucleotide variant Inborn genetic diseases [RCV003208156] Chr7:6826080 [GRCh38]
Chr7:6865711 [GRCh37]
Chr7:7p22.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2410
Count of miRNA genes:1059
Interacting mature miRNAs:1239
Transcripts:ENST00000316731, ENST00000411858, ENST00000462378, ENST00000464543, ENST00000467004, ENST00000468078, ENST00000472464, ENST00000481830, ENST00000485620, ENST00000486840, ENST00000490178, ENST00000496187, ENST00000538180
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH80485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,838,097 - 6,838,305UniSTSGRCh37
GRCh3775,965,868 - 5,966,076UniSTSGRCh37
Build 3675,932,394 - 5,932,602RGDNCBI36
Cytogenetic Map7p22.1UniSTS
HuRef75,871,890 - 5,872,098UniSTS
CRA_TCAGchr7v276,885,135 - 6,885,343UniSTS
CRA_TCAGchr7v276,012,213 - 6,012,421UniSTS
GeneMap99-GB4 RH Map737.67UniSTS
G54092  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,838,711 - 6,838,890UniSTSGRCh37
GRCh3775,965,283 - 5,965,462UniSTSGRCh37
Build 3675,931,809 - 5,931,988RGDNCBI36
Cytogenetic Map7p22.1UniSTS
HuRef75,871,307 - 5,871,486UniSTS
CRA_TCAGchr7v276,011,628 - 6,011,807UniSTS
CRA_TCAGchr7v276,885,749 - 6,885,928UniSTS
G54106  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,838,762 - 6,838,890UniSTSGRCh37
GRCh3775,965,283 - 5,965,411UniSTSGRCh37
Build 3675,931,809 - 5,931,937RGDNCBI36
Cytogenetic Map7p22.1UniSTS
HuRef75,871,307 - 5,871,435UniSTS
CRA_TCAGchr7v276,011,628 - 6,011,756UniSTS
CRA_TCAGchr7v276,885,800 - 6,885,928UniSTS
G20608  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3775,965,343 - 5,965,526UniSTSGRCh37
GRCh3776,838,647 - 6,838,830UniSTSGRCh37
Build 3675,931,869 - 5,932,052RGDNCBI36
Cytogenetic Map7p22.1UniSTS
HuRef75,871,367 - 5,871,550UniSTS
CRA_TCAGchr7v276,011,688 - 6,011,871UniSTS
CRA_TCAGchr7v276,885,685 - 6,885,868UniSTS
A005Y46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3776,838,647 - 6,838,830UniSTSGRCh37
GRCh3775,965,343 - 5,965,526UniSTSGRCh37
Build 3675,931,869 - 5,932,052RGDNCBI36
Cytogenetic Map7p22.1UniSTS
HuRef75,871,367 - 5,871,550UniSTS
CRA_TCAGchr7v276,885,685 - 6,885,868UniSTS
CRA_TCAGchr7v276,011,688 - 6,011,871UniSTS
GeneMap99-GB4 RH Map736.7UniSTS
NCBI RH Map7147.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 835 1375 874 76 376 14 2332 465 1217 38 792 883 66 668 1538 1
Low 3992 4509 2471 1091 3210 838 6347 3886 6186 723 2056 2275 273 1740 4037 6 1
Below cutoff 61 23 18 202 17 1 30 19 4 6 5 3 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000316731   ⟹   ENSP00000314544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,798,937 - 6,826,275 (-)Ensembl
RefSeq Acc Id: ENST00000411858   ⟹   ENSP00000390078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,813,023 - 6,826,243 (-)Ensembl
RefSeq Acc Id: ENST00000429267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,794,134 - 6,796,942 (-)Ensembl
RefSeq Acc Id: ENST00000462378
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,806,004 - 6,812,510 (-)Ensembl
RefSeq Acc Id: ENST00000464543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,824,038 - 6,826,216 (-)Ensembl
RefSeq Acc Id: ENST00000467004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,798,941 - 6,807,178 (-)Ensembl
RefSeq Acc Id: ENST00000468078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,799,195 - 6,801,595 (-)Ensembl
RefSeq Acc Id: ENST00000472464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,796,836 - 6,801,503 (-)Ensembl
RefSeq Acc Id: ENST00000481830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,796,809 - 6,801,001 (-)Ensembl
RefSeq Acc Id: ENST00000485620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,811,541 - 6,814,828 (-)Ensembl
RefSeq Acc Id: ENST00000486840
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,824,388 - 6,826,272 (-)Ensembl
RefSeq Acc Id: ENST00000490178
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,814,644 - 6,822,429 (-)Ensembl
RefSeq Acc Id: ENST00000496187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,823,856 - 6,826,205 (-)Ensembl
RefSeq Acc Id: ENST00000597208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,794,141 - 6,796,936 (-)Ensembl
RefSeq Acc Id: ENST00000626257   ⟹   ENSP00000487253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl76,798,941 - 6,826,770 (-)Ensembl
RefSeq Acc Id: NM_198097   ⟹   NP_932765
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3876,798,937 - 6,826,275 (-)NCBI
GRCh3776,838,566 - 6,865,926 (-)RGD
GRCh3776,838,566 - 6,865,926 (-)NCBI
Build 3676,805,097 - 6,832,386 (-)NCBI Archive
Celera75,897,907 - 5,900,900 (+)RGD
HuRef76,705,600 - 6,714,509 (-)NCBI
CHM1_176,838,187 - 6,865,549 (-)NCBI
T2T-CHM13v2.076,918,130 - 6,945,461 (-)NCBI
CRA_TCAGchr7v276,885,604 - 6,912,964 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_054357558   ⟹   XP_054213533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.076,920,640 - 6,945,461 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_932765   ⟸   NM_198097
- UniProtKB: Q9UG65 (UniProtKB/Swiss-Prot),   O95766 (UniProtKB/Swiss-Prot),   A2RU45 (UniProtKB/Swiss-Prot),   Q9Y359 (UniProtKB/Swiss-Prot),   P86791 (UniProtKB/Swiss-Prot),   P86790 (UniProtKB/Swiss-Prot),   Q7L8P3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000390078   ⟸   ENST00000411858
RefSeq Acc Id: ENSP00000487253   ⟸   ENST00000626257
RefSeq Acc Id: ENSP00000314544   ⟸   ENST00000316731
RefSeq Acc Id: XP_054213533   ⟸   XM_054357558
- Peptide Label: isoform X1
Protein Domains
CCZ1/INTU second Longin   CCZ1/INTU/HPS4 third Longin   CCZ1/INTU/HSP4 first Longin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P86790-F1-model_v2 AlphaFold P86790 1-482 view protein structure
AF-P86791-F1-model_v2 AlphaFold P86791 1-482 view protein structure

Promoters
RGD ID:7209907
Promoter ID:EPDNEW_H10699
Type:initiation region
Name:CCZ1B_1
Description:CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3876,826,264 - 6,826,324EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21717 AgrOrtholog
COSMIC CCZ1B COSMIC
Ensembl Genes ENSG00000122674 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000146574 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000316731 ENTREZGENE
  ENST00000316731.13 UniProtKB/Swiss-Prot
  ENST00000325974.9 UniProtKB/Swiss-Prot
  ENST00000411858.1 UniProtKB/TrEMBL
  ENST00000626257.2 UniProtKB/TrEMBL
  ENST00000628813.2 UniProtKB/TrEMBL
GTEx ENSG00000122674 GTEx
  ENSG00000146574 GTEx
HGNC ID HGNC:21717 ENTREZGENE
Human Proteome Map CCZ1B Human Proteome Map
InterPro Ccz1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CCZ1/INTU/HSP4_longin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CCZ1/INTU/HSP4_longin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CCZ1/INTU_longin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:221960 UniProtKB/Swiss-Prot
  hsa:51622 UniProtKB/Swiss-Prot
NCBI Gene 221960 ENTREZGENE
PANTHER PTHR13056 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  VACUOLAR FUSION PROTEIN CCZ1 HOMOLOG-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Intu_longin_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intu_longin_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intu_longin_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134930339 PharmGKB
UniProt A2RU45 ENTREZGENE
  CCZ1_HUMAN UniProtKB/Swiss-Prot
  CCZ1B_HUMAN UniProtKB/Swiss-Prot
  F8WD66_HUMAN UniProtKB/TrEMBL
  O95766 ENTREZGENE
  P86790 ENTREZGENE
  P86791 ENTREZGENE
  Q7L8P3 ENTREZGENE, UniProtKB/TrEMBL
  Q9UG65 ENTREZGENE
  Q9Y359 ENTREZGENE
UniProt Secondary A2RU45 UniProtKB/Swiss-Prot
  O95766 UniProtKB/Swiss-Prot
  Q9UG65 UniProtKB/Swiss-Prot
  Q9Y359 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-07-28 CCZ1B  CCZ1 homolog B, vacuolar protein trafficking and biogenesis associated    CCZ1 homolog, vacuolar protein trafficking and biogenesis associated B  Symbol and/or name change 5135510 APPROVED
2015-07-07 CCZ1B  CCZ1 homolog, vacuolar protein trafficking and biogenesis associated B    CCZ1 vacuolar protein trafficking and biogenesis associated B  Symbol and/or name change 5135510 APPROVED
2015-06-23 CCZ1B  CCZ1 vacuolar protein trafficking and biogenesis associated B    CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)  Symbol and/or name change 5135510 APPROVED
2011-11-29 CCZ1B  CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)  C7orf28B  chromosome 7 open reading frame 28B  Symbol and/or name change 5135510 APPROVED