Q15437 (SC23B_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein transport protein Sec23B

Alternative name(s):
SEC23-related protein B

Gene names

Name:

SEC23B

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	767 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Component of the COPII coat, that covers ER-derived vesicles involved in transport from the endoplasmic reticulum to the Golgi apparatus. COPII acts in the cytoplasm to promote the transport of secretory, plasma membrane, and vacuolar proteins from the endoplasmic reticulum to the Golgi complex By similarity.
Subunit structure	COPII is composed of at least five proteins: the Sec23/24 complex, the Sec13/31 complex and Sar1 By similarity.
Subcellular location	Golgi apparatus membrane By similarity. Endoplasmic reticulum membrane By similarity. Endoplasmic reticulum-Golgi intermediate compartment membrane By similarity.
Involvement in disease	Congenital dyserythropoietic anemia 2 (CDA2) [MIM:224100]: An autosomal recessive blood disorder characterized by morphological abnormalities of erythroblasts, ineffective erythropoiesis, normocytic anemia, iron overload, jaundice, and variable splenomegaly. Ultrastructural features include bi- or multinucleated erythroblasts in bone marrow, karyorrhexis, and the presence of Gaucher-like bone marrow histiocytes. The main biochemical feature of the disease is defective glycosylation of some red blood cells membrane proteins. Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7
Sequence similarities	Belongs to the SEC23/SEC24 family. SEC23 subfamily.

Ontologies

Keywords
Biological process	ER-Golgi transport Protein transport Transport
Cellular component	Endoplasmic reticulum Golgi apparatus Membrane
Coding sequence diversity	Polymorphism
Disease	Congenital dyserythropoietic anemia Disease mutation Hereditary hemolytic anemia
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	ER to Golgi vesicle-mediated transport Inferred from electronic annotation. Source: InterPro intracellular protein transport Inferred from electronic annotation. Source: InterPro vesicle-mediated transport Traceable author statement Ref.1. Source: ProtInc
Cellular_component	COPII vesicle coat Inferred from electronic annotation. Source: InterPro Golgi membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum membrane Inferred from electronic annotation. Source: UniProtKB-SubCell endoplasmic reticulum-Golgi intermediate compartment membrane Inferred from electronic annotation. Source: UniProtKB-SubCell intracellular membrane-bounded organelle Inferred from direct assay. Source: HPA membrane Traceable author statement Ref.1. Source: ProtInc perinuclear region of cytoplasm Inferred from electronic annotation. Source: Compara
Molecular_function	zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 767	767	Protein transport protein Sec23B		PRO_0000205148
Natural variations
	Natural variant	14	1	R → W in CDA2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. Ref.6 Ref.7		VAR_062294
	Natural variant	18	1	R → H. Ref.7		VAR_062295
	Natural variant	109	1	E → K in CDA2; the mutant protein is unstable with less than 5% of protein detectable compared to wild-type. Ref.6 Ref.7		VAR_062296
	Natural variant	239	1	D → G The mutant protein is expressed as the wild-type. Ref.7		VAR_062297
	Natural variant	313	1	R → H. Ref.7		VAR_062298
	Natural variant	318	1	I → T. Ref.7		VAR_062299
	Natural variant	348	1	D → A in CDA2. Ref.6		VAR_062300
	Natural variant	373	1	M → V. Ref.4 Corresponds to variant rs17849992 [ dbSNP | Ensembl ].		VAR_062301
	Natural variant	386	1	Q → R. Ref.7		VAR_062302
	Natural variant	426	1	V → I. Ref.7 Corresponds to variant rs41309927 [ dbSNP | Ensembl ].		VAR_062303
	Natural variant	433	1	P → L. Ref.4 Corresponds to variant rs17807673 [ dbSNP | Ensembl ].		VAR_034482
	Natural variant	462	1	Y → C. Ref.7		VAR_062304
	Natural variant	489	1	H → Q. Ref.1 Ref.6 Corresponds to variant rs2273526 [ dbSNP | Ensembl ].		VAR_020318
	Natural variant	497	1	R → C in CDA2; uncertain pathogenicity. Ref.6 Ref.7		VAR_062305
	Natural variant	524	1	A → V. Ref.7		VAR_062306
	Natural variant	530	1	R → W in CDA2. Ref.7		VAR_062307
	Natural variant	603	1	S → L in CDA2. Ref.6		VAR_062308
	Natural variant	701	1	R → C in CDA2. Ref.6		VAR_062309

Sequences

	Sequence		Length	Mass (Da)
	Q15437 [UniParc]. Last modified January 23, 2002. Version 2. Checksum: 1A00DE39D56B0204	FASTA	767	86,479
	10 20 30 40 50 60 MATYLEFIQQ NEERDGVRFS WNVWPSSRLE ATRMVVPLAC LLTPLKERPD LPPVQYEPVL 70 80 90 100 110 120 CSRPTCKAVL NPLCQVDYRA KLWACNFCFQ RNQFPPAYGG ISEVNQPAEL MPQFSTIEYV 130 140 150 160 170 180 IQRGAQSPLI FLYVVDTCLE EDDLQALKES LQMSLSLLPP DALVGLITFG RMVQVHELSC 190 200 210 220 230 240 EGISKSYVFR GTKDLTAKQI QDMLGLTKPA MPMQQARPAQ PQEHPFASSR FLQPVHKIDM 250 260 270 280 290 300 NLTDLLGELQ RDPWPVTQGK RPLRSTGVAL SIAVGLLEGT FPNTGARIML FTGGPPTQGP 310 320 330 340 350 360 GMVVGDELKI PIRSWHDIEK DNARFMKKAT KHYEMLANRT AANGHCIDIY ACALDQTGLL 370 380 390 400 410 420 EMKCCANLTG GYMVMGDSFN TSLFKQTFQR IFTKDFNGDF RMAFGATLDV KTSRELKIAG 430 440 450 460 470 480 AIGPCVSLNV KGPCVSENEL GVGGTSQWKI CGLDPTSTLG IYFEVVNQHN TPIPQGGRGA 490 500 510 520 530 540 IQFVTHYQHS STQRRIRVTT IARNWADVQS QLRHIEAAFD QEAAAVLMAR LGVFRAESEE 550 560 570 580 590 600 GPDVLRWLDR QLIRLCQKFG QYNKEDPTSF RLSDSFSLYP QFMFHLRRSP FLQVFNNSPD 610 620 630 640 650 660 ESSYYRHHFA RQDLTQSLIM IQPILYSYSF HGPPEPVLLD SSSILADRIL LMDTFFQIVI 670 680 690 700 710 720 YLGETIAQWR KAGYQDMPEY ENFKHLLQAP LDDAQEILQA RFPMPRYINT EHGGSQARFL 730 740 750 760 LSKVNPSQTH NNLYAWGQET GAPILTDDVS LQVFMDHLKK LAVSSAC

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning and functional characterization of mammalian homologues of the COPII component Sec23." Paccaud J.-P., Reith W., Carpentier J.-L., Ravazzola M., Amherdt M., Schekman R., Orci L. Mol. Biol. Cell 7:1535-1546(1996) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT GLN-489. Tissue: B-cell.
[2]	"The DNA sequence and comparative analysis of human chromosome 20." Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E. , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J. Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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], VARIANTS VAL-373 AND LEU-433. Tissue: Cervix, Placenta and Uterus.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[6]	"Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in the SEC23B gene." Bianchi P., Fermo E., Vercellati C., Boschetti C., Barcellini W., Iurlo A., Marcello A.P., Righetti P.G., Zanella A. Hum. Mutat. 30:1292-1298(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDA2 TRP-14; LYS-109; ALA-348; CYS-497; LEU-603 AND CYS-701, VARIANT GLN-489.
[7]	"Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II." Schwarz K., Iolascon A., Verissimo F., Trede N.S., Horsley W., Chen W., Paw B.H., Hopfner K.-P., Holzmann K., Russo R., Esposito M.R., Spano D., De Falco L., Heinrich K., Joggerst B., Rojewski M.T., Perrotta S., Denecke J. , Pannicke U., Delaunay J., Pepperkok R., Heimpel H. Nat. Genet. 41:936-940(2009) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS CDA2 TRP-14; LYS-109 AND TRP-530, VARIANTS HIS-18; GLY-239; HIS-313; THR-318; ARG-386; ILE-426; CYS-462; CYS-497 AND VAL-524, CHARACTERIZATION OF VARIANTS CDA2 TRP-14 AND LYS-109, CHARACTERIZATION OF VARIANT GLY-239.
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	X97065 mRNA. Translation: CAA65775.1. AL121893, AL121900 Genomic DNA. Translation: CAI12512.1. AL121900, AL121893 Genomic DNA. Translation: CAH73149.1. CH471133 Genomic DNA. Translation: EAX10231.1. CH471133 Genomic DNA. Translation: EAX10232.1. CH471133 Genomic DNA. Translation: EAX10233.1. CH471133 Genomic DNA. Translation: EAX10234.1. CH471133 Genomic DNA. Translation: EAX10235.1. BC005032 mRNA. Translation: AAH05032.1. BC005404 mRNA. Translation: AAH05404.1. BC095404 mRNA. Translation: AAH95404.1.
IPI	IPI00017376.
RefSeq	NP_001166216.1. NM_001172745.1. NP_001166217.1. NM_001172746.1. NP_006354.2. NM_006363.4. NP_116780.1. NM_032985.4. NP_116781.1. NM_032986.3.
UniGene	Hs.369373.
3D structure databases
ProteinModelPortal	Q15437.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q15437. 8 interactions.
STRING	9606.ENSP00000262544.
PTM databases
PhosphoSite	Q15437.
Polymorphism databases
DMDM	20141794.
Proteomic databases
PaxDb	Q15437.
PeptideAtlas	Q15437.
PRIDE	Q15437.
Protocols and materials databases
DNASU	10483.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000262544; ENSP00000262544; ENSG00000101310. ENST00000336714; ENSP00000338844; ENSG00000101310. ENST00000377465; ENSP00000366685; ENSG00000101310. ENST00000377475; ENSP00000366695; ENSG00000101310.
GeneID	10483.
KEGG	hsa:10483.
UCSC	uc002wqz.2. human.
Organism-specific databases
CTD	10483.
GeneCards	GC20P018488.
HGNC	HGNC:10702. SEC23B.
HPA	HPA008216.
MIM	224100. phenotype. 610512. gene.
neXtProt	NX_Q15437.
Orphanet	98873. Congenital dyserythropoietic anemia type 2.
PharmGKB	PA35625.
GenAtlas	Search...
Phylogenomic databases
eggNOG	COG5047.
HOVERGEN	HBG055039.
InParanoid	Q15437.
KO	K14006.
OMA	HNAPVPQ.
OrthoDB	EOG4BVRT0.
PhylomeDB	Q15437.
Gene expression databases
ArrayExpress	Q15437.
Bgee	Q15437.
CleanEx	HS_SEC23B.
Genevestigator	Q15437.
GermOnline	ENSG00000101310. Homo sapiens.
Family and domain databases
InterPro	IPR007123. Gelsolin_dom. IPR006900. Sec23/24_helical_dom. IPR006896. Sec23/24_trunk_dom. IPR012990. Sec23_24_beta_S. IPR006895. Znf_Sec23_Sec24. [Graphical view]
Pfam	PF00626. Gelsolin. 1 hit. PF08033. Sec23_BS. 1 hit. PF04815. Sec23_helical. 1 hit. PF04811. Sec23_trunk. 1 hit. PF04810. zf-Sec23_Sec24. 1 hit. [Graphical view]
SUPFAM	SSF81811. Sec23_helical. 1 hit. SSF82919. Znf_Sec23_Sec24. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	SEC23B. human.
GenomeRNAi	10483.
NextBio	39772.
SOURCE	Search...

Entry information

Entry name

SC23B_HUMAN

Accession

Primary (citable) accession number: Q15437
Secondary accession number(s): D3DW33 , Q503A9, Q5W183, Q9BS15, Q9BSI2, Q9H1D7

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	January 23, 2002
Last modified:	May 1, 2013
This is version 118 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.