The Immunoglobulin FactsBook

Marie-Paule Lefranc, Gerard Lefranc

• Editore: Academic Press
• Anno: 2001
• ISBN:
  9780080574479
• Argomento: Medicina
• Categoria: Immunologia

The FactsBook series has established itself as the best source of easily accessible and accurate facts about protein groups. Books in the series use an easy-to-follow format and are meticulously researched and compiled by experts in the field. The Immunoglobulin FactsBook is the first published reference for all 203 human functional and ORF immunoglobulin genes. It is complete and standardized and employs nomenclature approved by the HUGO Nomenclature Committee.

Section II

The Human Immunoglobulin IGH Genes

Part 1 IGHC

Part 2 IGHD

Part 3 IGHJ

Part 4 IGHV

Part 1

IGHC

IGHA1

Nomenclature

IGHAl: Immunoglobulin heavy constant alpha 1.

Definition and functionality

IGHAl is one of the nine functional genes of the human IGHC group which comprises 11 mapped genes.

Gene location

IGHAl is in the IGH locus on chromosome 14 at 14q32.33.

Gene structure

The IGHAl gene comprises three exons, with the hinge region being encoded at the beginning of the second exon. This organization is similar to that of the IGHA2 gene but different from the IGHD and IGHG genes which have separate hinge exons.

Nucleotide and amino acid sequences for human IGHAl

The nucleotide between parentheses at the beginning of exons comes from a DONOR_SPLICE (n from ngt). The first nucleotide from an INT_DONOR_SPLICE is underlined (n from ngt).

The Cysteines involved in the CHI, CH2 and CH3 intrachain disulphide bridges are shown with their number and letter C in bold. The Cysteines involved in the H-L or H-H interchain disulphide bridges are shown with only the letter C in bold. References are shown in square brackets.

(s) Transcript of a secreted chain.

Genome database accession numbers

GDB:119332

LocusLink: 3493

OMIM: 146900

IGHA2

Nomenclature

IGHA2: Immunoglobulin heavy constant alpha 2.

Definition and functionality

IGHA2 is one of the nine functional genes of the human IGHC group which comprises 11 mapped genes.

Gene location

IGHA2 is in the IGH locus on chromosome 14 at 14q32.33.

Gene structure

The IGHA2 gene comprises three exons, with the hinge region being encoded at the beginning of the second exon. This organization is similar to that of the IGHA2 gene but different from the IGHD and IGHG genes which have separate hinge exons.

Nucleotide and amino acid sequences for human IGHA2

The nucleotide between parentheses at the beginning of exons comes from a DONOR_SPLICE (n from ngt). The first nucleotide from an INT_DONOR_SPLICE is underlined (n from ngt).

The Cysteines involved in the CHI, CH2 and CH3 intrachain disulphide bridges are shown with their number and letter C in bold. The Cysteines involved in the H-L or H-H interchain disulphide bridges are shown with only the letter C in bold.

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