Q71VG2 (Q71VG2_HUMAN) Unreviewed, UniProtKB/TrEMBL

Names and origin

Protein names

Submitted name:
Beta-spectrin EMBL AAC02786.1

Gene names

Name:

HSpTB1 EMBL AAC02786.1

Organism

Homo sapiens (Human) EMBL AAC02786.1

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	51 AA.
Sequence status	Fragment.
Protein existence	Evidence at transcript level

Ontologies

Gene Ontology (GO)
Biological_process	hemopoiesis Inferred from electronic annotation. Source: Compara plasma membrane organization Inferred from electronic annotation. Source: Compara porphyrin-containing compound biosynthetic process Inferred from electronic annotation. Source: Compara
Cellular_component	cortical cytoskeleton Inferred from electronic annotation. Source: Compara plasma membrane Inferred from electronic annotation. Source: Compara spectrin-associated cytoskeleton Inferred from electronic annotation. Source: Compara
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Experimental info
	Non-terminal residue	1	1	EMBL AAC02786.1
	Non-terminal residue	51	1	EMBL AAC02786.1

Sequences

	Sequence		Length	Mass (Da)
	Q71VG2 [UniParc]. Last modified July 5, 2004. Version 1. Checksum: 29F9A04C2D7A8031	FASTA	51	6,035
	10 20 30 40 50 DEREVVQKKT FTKWVNSHLA RVSCRITDLY KDLRDGRMLI KLLEVLSGEM L

References

[1]

"A 5' splice region G-->C mutation in exon 3 of the human beta-spectrin gene leads to decreased levels of beta-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao)." Garbarz M., Galand C., Bibas D., Bournier O., Devaux I., Harousseau J.L., Grandchamp B., Dhermy D. Br. J. Haematol. 100:90-98(1998) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE.

+

Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF013172 Genomic DNA. Translation: AAC02786.1.
IPI	IPI00237806.
UniGene	Hs.417303.
3D structure databases
ProteinModelPortal	Q71VG2.
ModBase	Search...
Proteomic databases
PRIDE	Q71VG2.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Gene expression databases
ArrayExpress	Q71VG2.
Bgee	Q71VG2.
Family and domain databases
Gene3D	1.10.418.10. 1 hit.
InterPro	IPR001589. Actinin_actin-bd_CS. IPR001715. CH-domain. [Graphical view]
Pfam	PF00307. CH. 1 hit. [Graphical view]
SUPFAM	SSF47576. Calponin-homology. 1 hit.
PROSITE	PS00019. ACTININ_1. 1 hit. PS50021. CH. 1 hit. [Graphical view]
ProtoNet	Search...

Entry information

Entry name

Q71VG2_HUMAN

Accession

Primary (citable) accession number: Q71VG2

Entry history

Integrated into UniProtKB/TrEMBL:	July 5, 2004
Last sequence update:	July 5, 2004
Last modified:	May 29, 2013
This is version 55 of the entry and version 1 of the sequence. [Complete history]

Entry status

Unreviewed (UniProtKB/TrEMBL)

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.