A8K3F0 (A8K3F0_HUMAN) Unreviewed, UniProtKB/TrEMBL

Names and origin

Protein names

Submitted name:
Aminolevulinate, delta-, synthase 2 (Sideroblastic/hypochromic anemia), isoform CRA_c EMBL EAW93213.1

Submitted name:
cDNA FLJ78080, highly similar to Human ALAS 5-aminolevulinate synthase EMBL BAF83254.1
Submitted name:
cDNA, FLJ93603, highly similar to Homo sapiens aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia) (ALAS2), nuclear gene encoding mitochondrial protein, mRNA EMBL BAG35939.1

Gene names

Name:	ALAS2 EMBL EAW93213.1
ORF Names:	hCG_18952 EMBL EAW93213.1

Organism

Homo sapiens (Human) EMBL BAF83254.1

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	587 AA.
Sequence status	Complete.
Protein existence	Evidence at transcript level

General annotation (Comments)

Cofactor	Pyridoxal phosphate By similarity. RuleBase RU003693
Sequence similarities	Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family. RuleBase RU003693

Ontologies

Keywords
Ligand	Pyridoxal phosphate RuleBase RU003693
Molecular function	Transferase RuleBase RU003693
Gene Ontology (GO)
Biological process	porphyrin-containing compound metabolic process Inferred from electronic annotation. Source: InterPro tetrapyrrole biosynthetic process Inferred from electronic annotation. Source: InterPro
Cellular component	mitochondrial matrix Inferred from electronic annotation. Source: InterPro
Molecular function	pyridoxal phosphate binding Inferred from electronic annotation. Source: InterPro transferase activity, transferring nitrogenous groups Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequences

	Sequence		Length	Mass (Da)
	A8K3F0 [UniParc]. Last modified December 4, 2007. Version 1. Checksum: FD821BE245C440B5	FASTA	587	64,633
	10 20 30 40 50 60 MVTAAMLLQC CPVLARGPTS LLGKVVKTHQ FLFGIGRCPI LATQGPNCSQ IHLKATKAGG 70 80 90 100 110 120 DSPSWAKGHC PFMLSELQDG KSKIVQKAAP EVQEDVKAFK TDLPSSLVSV SLRKPFSGPQ 130 140 150 160 170 180 EQEQISGKVT HLIQNNMPGN YVFSYDQFFR DKIMEKKQDH TYRVFKTVNR WADAYPFAQH 190 200 210 220 230 240 FSEASVASKD VSVWCSNDYL GMSRHPQVLQ ATQETLQRHG AGAGGTRNIS GTSKFHVELE 250 260 270 280 290 300 QELAELHQKD SALLFSSCFV ANDSTLFTLA KILPGCEIYS DAGNHASMIQ GIRNSGAAKF 310 320 330 340 350 360 VFRHNDPDHL KKLLEKSNPK IPKIVAFETV HSMDGAICPL EELCDVSHQY GALTFVDEVH 370 380 390 400 410 420 AVGLYGSRGA GIGERDGIMH KIDIISGTLG KAFGCVGGYI ASTRDLVDMV RSYAAGFIFT 430 440 450 460 470 480 TSLPPMVLSG ALESVRLLKG EEGQALRRAH QRNVKHMRQL LMDRGLPVIP CPSHIIPIRV 490 500 510 520 530 540 GNAALNSKLC DLLLSKHGIY VQAINYPTVP RGEELLRLAP SPHHSPQMME DFVEKLLLAW 550 560 570 580 TAVGLPLQDV SVAACNFCRR PVHFELMSEW ERSYFGNMGP QYVTTYA

References

[1]	"NEDO human cDNA sequencing project." Wakamatsu A., Yamamoto J., Kimura K., Ishii S., Watanabe K., Sugiyama A., Murakawa K., Kaida T., Tsuchiya K., Fukuzumi Y., Kumagai A., Oishi Y., Yamamoto S., Ono Y., Komori Y., Yamazaki M., Kisu Y., Nishikawa T. , Sugano S., Nomura N., Isogai T. Submitted (OCT-2007) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE. Tissue: Lung EMBL BAF83254.1.
[2]	"NEDO functional analysis of protein and research application project." Wakamatsu A., Yamamoto J., Kimura K., Kaida T., Tsuchiya K., Iida Y., Takayama Y., Murakawa K., Kanehori K., Andoh T., Kagawa N., Sato R., Kawamura Y., Tanaka S., Kisu Y., Sugano S., Goshima N., Nomura N., Isogai T. Submitted (JAN-2008) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE. Tissue: Cord blood EMBL BAG35939.1.
[3]	Mural R.J., Istrail S., Sutton 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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AK290565 mRNA. Translation: BAF83254.1. AK313118 mRNA. Translation: BAG35939.1. CH471154 Genomic DNA. Translation: EAW93213.1.
IPI	IPI00304949.
RefSeq	NP_000023.2. NM_000032.4.
UniGene	Hs.522666. Hs.555936.
3D structure databases
ProteinModelPortal	A8K3F0.
SMR	A8K3F0. Positions 1-49, 144-542.
ModBase	Search...
Protein-protein interaction databases
STRING	A8K3F0.
Proteomic databases
PRIDE	A8K3F0.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
GeneID	212.
KEGG	hsa:212.
UCSC	uc004duc.2. human.
Organism-specific databases
CTD	212.
PharmGKB	PA24689.
Phylogenomic databases
HOVERGEN	HBG005954.
OMA	HLKESNE.
PhylomeDB	A8K3F0.
Gene expression databases
Bgee	A8K3F0.
Family and domain databases
InterPro	IPR010961. 4pyrrol_synth_NH2levulA_synth. IPR015118. 5aminolev_synth_preseq. IPR001917. Aminotrans_II_pyridoxalP_BS. IPR004839. Aminotransferase_I/II. IPR015424. PyrdxlP-dep_Trfase_major_dom. IPR015421. PyrdxlP-dep_Trfase_major_sub1. IPR015422. PyrdxlP-dep_Trfase_major_sub2. [Graphical view]
Gene3D	G3DSA:3.40.640.10. PyrdxlP-dep_Trfase_major_sub1. 1 hit. G3DSA:3.90.1150.10. PyrdxlP-dep_Trfase_major_sub2. 1 hit.
KO	K00643.
Pfam	PF00155. Aminotran_1_2. 1 hit. PF09029. Preseq_ALAS. 1 hit. [Graphical view]
SUPFAM	SSF53383. PyrdxlP-dep_Trfase_major. 1 hit.
TIGRFAMs	TIGR01821. 5aminolev_synth. 1 hit.
PROSITE	PS00599. AA_TRANSFER_CLASS_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	852.

Entry information

Entry name

A8K3F0_HUMAN

Accession

Primary (citable) accession number: A8K3F0

Entry history

Integrated into UniProtKB/TrEMBL:	December 4, 2007
Last sequence update:	December 4, 2007
Last modified:	November 16, 2011
This is version 41 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.