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Q9BUX1 (CHAC1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 95. 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·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Cation transport regulator-like protein 1
Alternative name(s):
Blocks Notch protein
Short name=Botch
Gene names
Name:CHAC1
Synonyms:BOTCH
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length264 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Negative regulator of Notch signaling pathway involved in embryonic neurogenesis: acts by inhibiting Notch cleavage by furin, maintaining Notch in an immature inactive form, thereby promoting neurogenesis in embryos. May also act as a pro-apoptotic component of the unfolded protein response pathway by mediating the pro-apoptotic effects of the ATF4-ATF3-DDIT3/CHOP cascade. Ref.4 Ref.5

Subunit structure

Interacts with NOTCH1 (via extracellular region) By similarity.

Subcellular location

Golgi apparatustrans-Golgi network By similarity. Cytoplasmcytosol Ref.4.

Induction

Induced by chemical activators of the unfolded protein response (UPR) such as tunicamycin, DTT and thapsigargin. Ref.4

Sequence similarities

Belongs to the ChaC family.

Caution

It is uncertain whether Met-1 or Met-43 is the initiator. Met-1 is not conserved in orthologs.

Sequence caution

The sequence AAH01683.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAH01847.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAH19625.1 differs from that shown. Reason: Erroneous initiation.

The sequence AAW23972.1 differs from that shown. Reason: Erroneous initiation.

Binary interactions

With

Entry

#Exp.

IntAct

Notes

RHOXF2Q9BQY42EBI-751127,EBI-372094

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9BUX1-1)

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.
Isoform 2 (identifier: Q9BUX1-2)

The sequence of this isoform differs from the canonical sequence as follows:
     146-190: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 264264Cation transport regulator-like protein 1
PRO_0000239010

Natural variations

Alternative sequence146 – 19045Missing in isoform 2.
VSP_038960

Experimental info

Sequence conflict10 – 123SGA → ARG in AAH01683. Ref.2
Sequence conflict591P → H in AAW23972. Ref.3

Sequences

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

Last modified April 20, 2010. Version 2.
Checksum: 746047C1AD03D375

FASTA26428,747
        10         20         30         40         50         60 
MGGAQLELPS GARPGVCVRR SFRAHAGDQP RRPPGPIPVP GTMKQESAAP NTPPTSQSPT 

        70         80         90        100        110        120 
PSAQFPRNDG DPQALWIFGY GSLVWRPDFA YSDSRVGFVR GYSRRFWQGD TFHRGSDKMP 

       130        140        150        160        170        180 
GRVVTLLEDH EGCTWGVAYQ VQGEQVSKAL KYLNVREAVL GGYDTKEVTF YPQDAPDQPL 

       190        200        210        220        230        240 
KALAYVATPQ NPGYLGPAPE EAIATQILAC RGFSGHNLEY LLRLADFMQL CGPQAQDEHL 

       250        260 
AAIVDAVGTM LPCFCPTEQA LALV 

« Hide

Isoform 2 [UniParc].

Checksum: A7EC06A98FB979EA
Show »

FASTA21923,795

References

« Hide 'large scale' references
[1]"Analysis of the DNA sequence and duplication history of human chromosome 15."
Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K., Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N., Abouelleil A. expand/collapse author list , Arachchi H.M., Baradarani L., Birditt B., Bloom S., Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K., DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J., Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E., Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B., Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R., O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B., Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S., Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.
Nature 440:671-675(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"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] OF 9-264 (ISOFORM 1).
Tissue: Liver and Muscle.
[3]"Cloning and analyzing of a new chaC like cDNA from human kidney."
Zheng J.M., Liu Z.H., Li L.S.
Submitted (JUL-2004) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 41-264 (ISOFORM 2).
[4]"CHAC1/MGC4504 is a novel proapoptotic component of the unfolded protein response, downstream of the ATF4-ATF3-CHOP cascade."
Mungrue I.N., Pagnon J., Kohannim O., Gargalovic P.S., Lusis A.J.
J. Immunol. 182:466-476(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, INDUCTION, SUBCELLULAR LOCATION.
[5]"Botch promotes neurogenesis by antagonizing Notch."
Chi Z., Zhang J., Tokunaga A., Harraz M.M., Byrne S.T., Dolinko A., Xu J., Blackshaw S., Gaiano N., Dawson T.M., Dawson V.L.
Dev. Cell 22:707-720(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AC020661 Genomic DNA. No translation available.
BC001683 mRNA. Translation: AAH01683.1. Different initiation.
BC001847 mRNA. Translation: AAH01847.1. Different initiation.
BC019625 mRNA. Translation: AAH19625.1. Different initiation.
AY702027 mRNA. Translation: AAW23972.1. Different initiation.
CCDSCCDS10070.2. [Q9BUX1-1]
CCDS45233.1. [Q9BUX1-2]
RefSeqNP_001136248.1. NM_001142776.1. [Q9BUX1-2]
NP_077016.2. NM_024111.3. [Q9BUX1-1]
UniGeneHs.155569.

3D structure databases

ProteinModelPortalQ9BUX1.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid122541. 2 interactions.
IntActQ9BUX1. 1 interaction.
MINTMINT-1451921.

PTM databases

PhosphoSiteQ9BUX1.

Polymorphism databases

DMDM294862423.

Proteomic databases

PaxDbQ9BUX1.
PRIDEQ9BUX1.

Protocols and materials databases

DNASU79094.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000444189; ENSP00000395466; ENSG00000128965. [Q9BUX1-2]
ENST00000446533; ENSP00000398105; ENSG00000128965. [Q9BUX1-1]
GeneID79094.
KEGGhsa:79094.
UCSCuc001znh.2. human. [Q9BUX1-1]
uc010uct.1. human. [Q9BUX1-2]

Organism-specific databases

CTD79094.
GeneCardsGC15P041245.
H-InvDBHIX0012144.
HGNCHGNC:28680. CHAC1.
HPAHPA042708.
HPA043505.
MIM614587. gene.
neXtProtNX_Q9BUX1.
PharmGKBPA142672119.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG3703.
HOGENOMHOG000264264.
HOVERGENHBG056733.
InParanoidQ9BUX1.
KOK07232.
OMAGTMKQES.
OrthoDBEOG7F7W9F.
PhylomeDBQ9BUX1.
TreeFamTF313048.

Gene expression databases

ArrayExpressQ9BUX1.
BgeeQ9BUX1.
CleanExHS_CHAC1.
GenevestigatorQ9BUX1.

Family and domain databases

Gene3D3.10.490.10. 1 hit.
InterProIPR013024. Butirosin_synth_BtrG-like.
IPR006840. ChaC.
[Graphical view]
PANTHERPTHR12192. PTHR12192. 1 hit.
PfamPF04752. ChaC. 1 hit.
[Graphical view]
SUPFAMSSF110857. SSF110857. 1 hit.
ProtoNetSearch...

Other

ChiTaRSCHAC1. human.
GenomeRNAi79094.
NextBio67939.
PROQ9BUX1.
SOURCESearch...

Entry information

Entry nameCHAC1_HUMAN
AccessionPrimary (citable) accession number: Q9BUX1
Secondary accession number(s): Q0VIA0
Entry history
Integrated into UniProtKB/Swiss-Prot: May 30, 2006
Last sequence update: April 20, 2010
Last modified: July 9, 2014
This is version 95 of the entry and version 2 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

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 15

Human chromosome 15: entries, gene names and cross-references to MIM